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1
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Van Laethem J, Seyler L, Tonnelier A. Primary renal tubular acidosis during pregnancy, what about the perinatal prognosis? A case report and literature review. Nefrologia 2025; 45:329-336. [PMID: 40288831 DOI: 10.1016/j.nefroe.2025.04.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/27/2024] [Accepted: 12/07/2024] [Indexed: 04/29/2025] Open
Abstract
Renal tubular acidosis (RTA) is a group of disorders caused by tubular defects leading to defective reabsorption of bicarbonate (HCO3-) and/or secretion of protons (H+). It is known that pregnancy can induce or worsen some forms of RTA. To date, no systematic data exist on the course of pregnancy in hereditary RTA-affected mothers, nor on the outcome of both mothers and children. A 35-year-old female patient attends her routine obstetric follow-up consultation at 32-weeks' pregnancy. From the 6th week of gestation, she has been complaining of general malaise, accompanied by paraesthesia in both hands. She is known to have renal tubular acidosis type 1, carrying a mutation in the SLC4A1 gene encoding for the bicarbonate-chloride exchanger located in the alpha-intercalated cell of the renal collecting tubule. At week 32, serum bicarbonate levels appeared to be 11mEq/l. The patient was hospitalised and treated with intravenous sodium bicarbonate and potassium chloride. After 5 days, the symptoms resolved, and her bicarbonate level had normalised. A healthy infant was born with a normal Apgar score. Carriage of the same mutation was found in the child at 16 months. Our literature study shows that 12 of the 13 reported infants born from a mother with primary RTA were healthy at delivery. One neonate revealed signs of hyperparathyroidism at day 2, but those signs resolved at 1 month of age. RTA during pregnancy is often associated with decompensation and worsening of acidosis. More attention should be paid to patients with RTA suffering from hyperemesis gravidas, in particular regarding therapy adherence. Our literature review focusses on foetal prognosis, which seems to be favourable in most of the reported pregnancies.
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Affiliation(s)
- Johan Van Laethem
- Internal Medicine Research Group, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Department of Internal Medicine and Infectious Diseases, Brussels, Belgium.
| | - Lucie Seyler
- Internal Medicine Research Group, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Department of Internal Medicine and Infectious Diseases, Brussels, Belgium
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2
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Eraky AM, Yerramalla Y, Khan A, Mokhtar Y, Wright A, Alsabbagh W, Franco Valle K, Haleem M, Kennedy K, Boulware C. Complexities, Benefits, Risks, and Clinical Implications of Sodium Bicarbonate Administration in Critically Ill Patients: A State-of-the-Art Review. J Clin Med 2024; 13:7822. [PMID: 39768744 PMCID: PMC11678678 DOI: 10.3390/jcm13247822] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2024] [Revised: 12/05/2024] [Accepted: 12/19/2024] [Indexed: 01/11/2025] Open
Abstract
Sodium bicarbonate has been used in the treatment of different pathologies, such as hyperkalemia, cardiac arrest, tricyclic antidepressant toxicity, aspirin toxicity, acute acidosis, lactic acidosis, diabetic ketoacidosis, rhabdomyolysis, and adrenergic receptors' resistance to catecholamine in patients with shock. An ongoing debate about bicarbonate's efficacy and potential harm has been raised for decades because of the lack of evidence supporting its potential efficacy. Despite the guidelines' restrictions, sodium bicarbonate has been overused in clinical practice. The overuse of sodium bicarbonate could be because of the desire to correct the arterial blood gas parameters rapidly instead of achieving homeostasis by treating the cause of the metabolic acidosis. Moreover, it is believed that sodium bicarbonate may reverse acidosis-induced myocardial depression, hemodynamic instability, ventricular arrhythmias, impaired cellular energy production, resistance to catecholamines, altered metabolism, enzyme suppression, immune dysfunction, and ineffective oxygen delivery. On the other hand, it is crucial to pay attention to the potential harm that could be caused by excessive sodium bicarbonate administration. Sodium bicarbonate may cause paradoxical respiratory acidosis, intracellular acidosis, hypokalemia, hypocalcemia, alkalosis, impaired oxygen delivery, cerebrospinal fluid acidosis, and neurologic dysfunction. In this review, we discuss the pathophysiology of sodium bicarbonate-induced adverse effects and potential benefits. We also review the most recent clinical trials, observational studies, and guidelines discussing the use of sodium bicarbonate in different pathologies.
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Affiliation(s)
- Akram M. Eraky
- Emergency Medicine, Freeman Health System, Joplin, MO 64804, USA; (A.W.); (K.K.); (C.B.)
- Graduate Medical Education, Kansas City University, Kansas City, MO 64106, USA
| | - Yashwanth Yerramalla
- Pulmonology and Critical Care Medicine, Freeman Health System, Joplin, MO 64804, USA; (Y.Y.); (A.K.); (Y.M.)
| | - Adnan Khan
- Pulmonology and Critical Care Medicine, Freeman Health System, Joplin, MO 64804, USA; (Y.Y.); (A.K.); (Y.M.)
| | - Yasser Mokhtar
- Pulmonology and Critical Care Medicine, Freeman Health System, Joplin, MO 64804, USA; (Y.Y.); (A.K.); (Y.M.)
| | - Alisha Wright
- Emergency Medicine, Freeman Health System, Joplin, MO 64804, USA; (A.W.); (K.K.); (C.B.)
| | - Walaa Alsabbagh
- Internal Medicine, Northern General Hospital, Sheffield S5 7AU, UK;
| | - Kevin Franco Valle
- Anesthesiology Department, University of Michigan Medical School, University of Michigan, Ann Arbor, MI 48109, USA;
| | - Mina Haleem
- Nephrology Unit, Department of Clinical and Experimental Internal Medicine, Medical Research Institute, Alexandria University, Alexandria 5422031, Egypt;
| | - Kyle Kennedy
- Emergency Medicine, Freeman Health System, Joplin, MO 64804, USA; (A.W.); (K.K.); (C.B.)
| | - Chad Boulware
- Emergency Medicine, Freeman Health System, Joplin, MO 64804, USA; (A.W.); (K.K.); (C.B.)
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Leventoğlu E. Distal renal tubular acidosis as a rare complication of vesicoureteral reflux in children: a case report and literature review. CEN Case Rep 2024; 13:489-494. [PMID: 38637460 PMCID: PMC11608197 DOI: 10.1007/s13730-024-00873-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2023] [Accepted: 03/29/2024] [Indexed: 04/20/2024] Open
Abstract
Distal renal tubular acidosis (dRTA) is a clinical picture of hyperchloremic hypokalemic metabolic acidosis with a normal anion gap. It can be caused by a variety of conditions including obstructive uropathy such as vesicoureteral reflux (VUR). We report a rare case of dRTA secondary to VUR in a 4-year-old girl with a history of meningomyelocele, neurogenic bladder and recurrent urinary tract infections. She was admitted to the hospital with complaints of polydipsia, polyuria, and inability to gain weight for the last 1 year. She was on prophylactic antibiotic treatment with clean intermittent catheterization and anticholinergic drug. She had a history of subureteral injection of various agents and botulin toxin injection into the bladder. Her voiding cystourethrogram revealed grade 5 VUR in the left kidney, tortuosity in the left ureter, and the bladder had a dome-like appearance and was trabeculated. When all laboratory values of the patient since birth were examined, it was observed that urine pH was high despite hypokalemic hyperchloremic metabolic acidosis for the last year; these abnormalities became more severe in the last few months. In conclusion, the development of hypokalemia and nephrolithiasis/nephrocalcinosis along with metabolic acidosis in a patient diagnosed with VUR should be considered as an indicator of impaired tubular functions. Also, the possibility of an underlying VUR in the presence of recurrent urinary tract infection in a patient diagnosed with dRTA should not be ignored.
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Affiliation(s)
- Emre Leventoğlu
- Department of Pediatric Nephrology, Konya City Hospital, Konya, Turkey.
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4
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Traunero A, Baldo F, Magnolato A, Di Leo G, Barbi E, Bruno I. Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm. Ital J Pediatr 2024; 50:132. [PMID: 39075568 PMCID: PMC11288117 DOI: 10.1186/s13052-024-01696-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/04/2023] [Accepted: 07/01/2024] [Indexed: 07/31/2024] Open
Abstract
BACKGROUND Mitochondrial diseases (MDs) are systemic disorders that can affect multiple organs. Renal manifestations, including renal tubular acidosis, are common because kidneys are particularly vulnerable to energy deprivation. Treatment of MDs is often complex and electrolyte replacement can be difficult especially in pediatric patients, because large and repeated amounts of oral supplements are needed but are not well tolerated. CASE PRESENTATION We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of serum bicarbonates despite a progressive incrementation of oral bicarbonates. Furthermore, as a result to the ingestion of large amounts of alkali, the girl developed an aversion to oral supplementation. After positioning a percutaneous gastrostomy (PEG) and starting enteral administration of bicarbonates (with daily boluses and continuous nocturnal infusion), she finally obtained an adequate electrolyte control, with a significant increase in her quality of life. CONCLUSIONS In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved patients' quality of life, particularly in pediatric settings, where compliance to oral therapy is often lacking due to the large and repeated amounts of unpalatable bicarbonates solutions required.
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Affiliation(s)
- Arianna Traunero
- Department of Surgical, Medical and Health Sciences, University of Trieste, Via dell'Istria 65/1, 34127, Trieste, Italy.
| | - Francesco Baldo
- Institute for Maternal and Child IRCCS Burlo Garofolo, Trieste, Italy
| | - Andrea Magnolato
- Institute for Maternal and Child IRCCS Burlo Garofolo, Trieste, Italy
| | - Grazia Di Leo
- Institute for Maternal and Child IRCCS Burlo Garofolo, Trieste, Italy
| | - Egidio Barbi
- Department of Surgical, Medical and Health Sciences, University of Trieste, Via dell'Istria 65/1, 34127, Trieste, Italy
- Institute for Maternal and Child IRCCS Burlo Garofolo, Trieste, Italy
| | - Irene Bruno
- Institute for Maternal and Child IRCCS Burlo Garofolo, Trieste, Italy
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Sinopoli HJ, Khouri Y. Failure to Thrive With Severe Hypokalemia Yields Cystinosis Diagnosis in a 19-Month-Old Female Child: A Case Report. Cureus 2024; 16:e63122. [PMID: 39055402 PMCID: PMC11272141 DOI: 10.7759/cureus.63122] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Accepted: 06/25/2024] [Indexed: 07/27/2024] Open
Abstract
Cystinosis is a rare, genetically inherited disease that affects lysosomal storage of cysteine. It is the most common cause of Fanconi syndrome. Mutations have led to early-onset end-stage renal disease as well as other systemic organ failures. In this case, we report a 19-month-old female child who presented acutely to the outpatient clinic with nausea, vomiting, and diarrhea. The patient was previously diagnosed with unspecified renal tubular acidosis and treated with oral electrolytes. Early labs during her acute presentation showed severe hypokalemia and electrolyte imbalance, which necessitated a transfer to a pediatric ICU. Through confirmatory testing, a diagnosis of cystinosis was made. This case is an example of the recognition and treatment of a rare inherited disease.
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Affiliation(s)
- Himbert J Sinopoli
- College of Medicine, Alabama College of Osteopathic Medicine, Dothan, USA
| | - Yousef Khouri
- Pediatrics, Alabama College of Osteopathic Medicine, Dothan, USA
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6
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Al-Beltagi M, Saeed NK, Bediwy AS, Elbeltagi R, Hasan S, Hamza MB. Renal calcification in children with renal tubular acidosis: What a paediatrician should know. World J Clin Pediatr 2023; 12:295-309. [PMID: 38178934 PMCID: PMC10762599 DOI: 10.5409/wjcp.v12.i5.295] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/29/2023] [Revised: 09/15/2023] [Accepted: 10/16/2023] [Indexed: 12/08/2023] Open
Abstract
Renal tubular acidosis (RTA) can lead to renal calcification in children, which can cause various complications and impair renal function. This review provides pediatricians with a comprehensive understanding of the relationship between RTA and renal calcification, highlighting essential aspects for clinical management. The article analyzed relevant studies to explore the prevalence, risk factors, underlying mechanisms, and clinical implications of renal calcification in children with RTA. Results show that distal RTA (type 1) is particularly associated with nephrocalcinosis, which presents a higher risk of renal calcification. However, there are limitations to the existing literature, including a small number of studies, heterogeneity in methodologies, and potential publication bias. Longitudinal data and control groups are also lacking, which limits our understanding of long-term outcomes and optimal management strategies for children with RTA and renal calcification. Pediatricians play a crucial role in the early diagnosis and management of RTA to mitigate the risk of renal calcification and associated complications. In addition, alkaline therapy remains a cornerstone in the treatment of RTA, aimed at correcting the acid-base imbalance and reducing the formation of kidney stones. Therefore, early diagnosis and appropriate therapeutic interventions are paramount in preventing and managing renal calcification to preserve renal function and improve long-term outcomes for affected children. Further research with larger sample sizes and rigorous methodologies is needed to optimize the clinical approach to renal calcification in the context of RTA in the pediatric population.
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Affiliation(s)
- Mohammed Al-Beltagi
- Department of Pediatrics, Faculty of Medicine, Tanta University, Tanta 31511, Alghrabia, Egypt
- Department of Pediatrics, University Medical Center, King Abdulla Medical City, Dr. Sulaiman Al Habib Medical Group, Manama, Bahrain, Manama 26671, Manama, Bahrain
| | - Nermin Kamal Saeed
- Medical Microbiology Section, Department of Pathology, Salmaniya Medical Complex, Ministry of Health, Kingdom of Bahrain, Manama 12, Manama, Bahrain
- Medical Microbiology Section, Department of Pathology, Irish Royal College of Surgeon, Bahrain, Busaiteen 15503, Muharraq, Bahrain
| | - Adel Salah Bediwy
- Department of Pulmonology, Faculty of Medicine, Tanta University, Tanta 31527, Alghrabia, Egypt
- Department of Chest Disease, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Dr. Sulaiman Al Habib Medical Group, Manama, Manama 26671, Manama, Bahrain
| | - Reem Elbeltagi
- Department of Medicine, The Royal College of Surgeons in Ireland - Bahrain, Busiateen 15503, Muharraq, Bahrain
| | - Samir Hasan
- Department of Pediatrics, Faculty of Medicine, Tanta University Hospital, Tanta 31511, Algharbia, Egypt
| | - Mohamed Basiony Hamza
- Department of Pediatrics, Faculty of Medicine, Tanta University, Tanta 31511, Algharbia, Egypt
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7
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Kumagai N, Matsuki T, Nakayama M. An Infant Case of Transient Distal Renal Tubular Acidosis and Fanconi Syndrome Caused by Rotavirus Gastroenteritis. TOHOKU J EXP MED 2023; 261:195-198. [PMID: 37635062 DOI: 10.1620/tjem.2023.j070] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 08/29/2023]
Abstract
We report an infant case of transient distal renal tubular acidosis and Fanconi syndrome caused by rotavirus gastroenteritis. A 10-month-old boy was admitted to the hospital because of frequent vomiting, lack of vitality, and dehydration. He was diagnosed with rotavirus gastroenteritis on account of his positive stool rotavirus antigen test. Although he presented with acidemia and severe mixed metabolic acidosis, he also had a urine pH of 6.0, indicating impaired urinary acidification. Therefore, he was diagnosed with distal renal tubular acidosis. On the third day of hospitalization, a relatively low %tubular reabsorption of phosphate level with hypophosphatemia, increased fractional excretion of uric acid with hypouricemia, and high urinary β2-microglobulin levels were observed. Moreover, he was diagnosed with Fanconi syndrome on account of multiple proximal tubular dysfunctions. After remission of rotavirus gastroenteritis, the signs of renal tubular dysfunction improved. This was a case of rotavirus gastroenteritis-caused transient distal renal tubular acidosis and Fanconi syndrome. Severe metabolic acidosis resulted from anion-gap metabolic acidosis due to acute kidney injury by rotavirus gastroenteritis and normal anion-gap acidosis due to renal tubular acidosis. When renal tubular acidosis is associated with a disease that causes anion-gap metabolic acidosis, mixed metabolic acidosis occurs and becomes exacerbated. Furthermore, it is important to consider the complications of renal tubular acidosis in the case of severe metabolic acidosis.
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Affiliation(s)
- Naonori Kumagai
- Department of Pediatrics, Tohoku University School of Medicine
| | | | - Makiko Nakayama
- Department of Pediatrics, Tohoku University School of Medicine
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8
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Caliskan A, Arga KY. A Differential Transcriptional Regulome Approach to Unpack Cancer Biology: Insights on Renal Cell Carcinoma Subtypes. OMICS : A JOURNAL OF INTEGRATIVE BIOLOGY 2023; 27:536-545. [PMID: 37943533 DOI: 10.1089/omi.2023.0167] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/10/2023]
Abstract
Cancer research calls for new approaches that account for the regulatory complexities of biology. We present, in this study, the differential transcriptional regulome (DIFFREG) approach for the identification and prioritization of key transcriptional regulators and apply it to the case of renal cell carcinoma (RCC) biology. Of note, RCC has a poor prognosis and the biomarker and drug discovery studies to date have tended to focus on gene expression independent from mutations and/or post-translational modifications. DIFFREG focuses on the differential regulation between transcription factors (TFs) and their target genes rather than differential gene expression and integrates transcriptome profiling with the human transcriptional regulatory network to analyze differential gene regulation between healthy and RCC cases. In this study, RNA-seq tissue samples (n = 1020) from the Cancer Genome Atlas (TCGA), including healthy and tumor subjects, were integrated with a comprehensive human TF-gene interactome dataset (1122603 interactions between 1289 TFs and 25177 genes). Comparative analysis of DIFFREG profiles, consisting of perturbed TF-gene interactions, from three common subtypes (clear cell RCC, papillary RCC and chromophobe RCC) revealed subtype-specific alterations, supporting the hypothesis that these signatures in the transcriptional regulome profiles may be considered potential biomarkers that may play an important role in elucidating the molecular mechanisms of RCC development and translating knowledge about the genetic basis of RCC into the clinic. In addition, these indicators may help oncologists make the best decisions for diagnosis and prognosis management.
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Affiliation(s)
- Aysegul Caliskan
- Department of Bioengineering, Marmara University, Istanbul, Turkey
- Department of Pharmacy, Faculty of Pharmacy, Istinye University, Istanbul, Turkey
| | - Kazim Yalcin Arga
- Department of Bioengineering, Marmara University, Istanbul, Turkey
- Genetic and Metabolic Diseases Research and Investigation Center (GEMHAM), Marmara University, Istanbul, Turkey
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9
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Stewart GW, Gibson JS, Rees DC. The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins. Br J Haematol 2023; 203:509-522. [PMID: 37679660 DOI: 10.1111/bjh.19093] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/07/2023] [Revised: 08/13/2023] [Accepted: 08/22/2023] [Indexed: 09/09/2023]
Abstract
This review concerns a series of dominantly inherited haemolytic anaemias in which the membrane of the erythrocyte 'leaks' the univalent cations, compromising the osmotic stability of the cell. The majority of the conditions are explained by mutations in one of six genes, coding for multispanning membrane proteins of different structure and function. These are: RhAG, coding for an ammonium carrier; SLC4A1, coding for the band 3 anion exchanger; PIEZO1, coding for a mechanosensitive cation channel; GLUT1, coding for a glucose transporter; KCNN4, coding for an internal-calcium-activated potassium channel; and ABCB6, coding for a porphyrin transporter. This review describes the five clinical syndromes associated with genetic defects in these genes and their variable genotype/phenotype relationships.
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Affiliation(s)
- Gordon W Stewart
- Division of Medicine, Faculty of Medical Sciences, University College London, London, UK
| | - John S Gibson
- Department of Veterinary Medicine, University of Cambridge, Cambridge, UK
| | - David C Rees
- Haematological Medicine, Kings College London, London, UK
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10
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Kermond R, Mallett A, McCarthy H. A clinical approach to tubulopathies in children and young adults. Pediatr Nephrol 2023; 38:651-662. [PMID: 35585366 PMCID: PMC9842573 DOI: 10.1007/s00467-022-05606-1] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/11/2022] [Revised: 04/27/2022] [Accepted: 04/28/2022] [Indexed: 01/21/2023]
Abstract
Kidney tubules are responsible for the preservation of fluid, electrolyte and acid-base homeostasis via passive and active mechanisms. These physiological processes can be disrupted by inherited or acquired aetiologies. The net result is a tubulopathy. It is important to make a prompt and accurate diagnosis of tubulopathies in children and young adults. This allows timely and appropriate management, including disease-specific therapies, and avoids complications such as growth failure. Tubulopathies can present with a variety of non-specific clinical features which can be diagnostically challenging. In this review, we build from this common anatomical and physiological understanding to present a tangible appreciation of tubulopathies as they are likely to be clinically encountered among affected children and young adults.
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Affiliation(s)
- Rachael Kermond
- Department of Renal Medicine, Sydney Children's Hospital Network, Sydney, NSW, Australia
| | - Andrew Mallett
- Department of Renal Medicine, Townsville University Hospital, Douglas, QLD, Australia.
- College of Medicine and Dentistry, James Cook University, Douglas, QLD, Australia.
- Institute for Molecular Bioscience & Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
| | - Hugh McCarthy
- Department of Renal Medicine, Sydney Children's Hospital Network, Sydney, NSW, Australia.
- Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
- Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
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11
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Casey B, Hofstrand R, Patel D, Bahekar A, Chapa-Rodriguez A. Hypokalemia-Induced Cardiac Arrest. Cureus 2023; 15:e35034. [PMID: 36942187 PMCID: PMC10023261 DOI: 10.7759/cureus.35034] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/14/2023] [Indexed: 02/17/2023] Open
Abstract
Renal tubular acidosis (RTA) refers to a group of disorders in which the elimination of hydrogen ions from the kidney or the reabsorption of filtered bicarbonate is impaired, resulting in metabolic acidosis. Hypokalemia is also prominent in different types of RTA. We are presenting an interesting case about a chronic alcoholic patient who presented to the emergency department and was found to be severely hypokalemic. During her hospital stay, she had multiple cardiac arrests likely secondary to her hypokalemia despite adequate treatment with potassium supplementation. We came to the conclusion of distal RTA in our patient based on hyperchloremic metabolic acidosis, sodium bicarbonate of 10 mmol/L, low potassium, blood urea nitrogen, and creatinine within normal limits, alkaline urine, and a positive urinary anion gap. It is likely that the cause of our patient's underlying type 1 RTA was secondary to her chronic alcohol abuse. Her potassium eventually returned to baseline, and she was discharged.
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Affiliation(s)
- Bradley Casey
- Internal Medicine, Cape Fear Valley Medical Center, Fayetteville, USA
| | - Reese Hofstrand
- Internal Medicine, Cape Fear Valley Medical Center, Fayetteville, USA
| | - Divyang Patel
- Cardiology, Cape Fear Valley Medical Center, Fayetteville, USA
| | - Amol Bahekar
- Cardiology, Cape Fear Valley Medical Center, Fayetteville, USA
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12
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Kim R, Ye X, Sanchez-Lara PA, Puliyanda D, Kumar S, Pizzo H. Failure to thrive in an 8-month-old female: Answers. Pediatr Nephrol 2022:10.1007/s00467-022-05788-8. [PMID: 36315276 DOI: 10.1007/s00467-022-05788-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/13/2022] [Revised: 09/30/2022] [Accepted: 10/03/2022] [Indexed: 03/01/2023]
Affiliation(s)
- Romina Kim
- Pediatric Hospital Medicine, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Ste 4221, Los Angeles, CA, 90048, USA.
| | - XinYi Ye
- David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
| | - Pedro A Sanchez-Lara
- Pediatrics and Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA
| | - Dechu Puliyanda
- Pediatric Nephrology, Cedars-Sinai Medical Center, Los Angeles, CA, USA
| | - Sanjeev Kumar
- Nephrology, Cedars-Sinai Medical Center, Los Angeles, CA, USA
| | - Helen Pizzo
- Pediatric Nephrology, Cedars-Sinai Medical Center, Los Angeles, CA, USA
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13
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Kilduff S, Goilav B. 50 Years Ago in TheJournalofPediatrics: When Little Kidneys Turn Sour - Renal Tubular Acidosis in Infants and Children. J Pediatr 2022; 244:106. [PMID: 35534155 DOI: 10.1016/j.jpeds.2022.02.021] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Affiliation(s)
- Stella Kilduff
- Pediatric Nephrology, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York
| | - Beatrice Goilav
- Pediatric Nephrology, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York
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14
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Kumagai N, Kondoh T, Matsumoto Y, Ikezumi Y. Transient Type 3 Renal Tubular Acidosis during Cyclic Vomiting Syndrome. TOHOKU J EXP MED 2022; 257:73-76. [PMID: 35354692 DOI: 10.1620/tjem.2022.j015] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022]
Affiliation(s)
- Naonori Kumagai
- Department of Pediatrics, Fujita Health University School of Medicine
| | - Tomomi Kondoh
- Department of Pediatrics, Fujita Health University School of Medicine
| | - Yuji Matsumoto
- Department of Pediatrics, Fujita Health University School of Medicine
| | - Yohei Ikezumi
- Department of Pediatrics, Fujita Health University School of Medicine
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15
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Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K. Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4. J Am Dent Assoc 2022; 153:668-676. [DOI: 10.1016/j.adaj.2021.12.009] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2021] [Revised: 12/22/2021] [Accepted: 12/29/2021] [Indexed: 01/10/2023]
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16
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Makharia A, Lakhotia M, Gupta M, Lalwani P. Hypokalaemic quadriparesis with respiratory failure due to latent Sjogren syndrome. BMJ Case Rep 2021; 14:14/7/e243057. [PMID: 34290020 DOI: 10.1136/bcr-2021-243057] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
Sjogren's syndrome (SS) is an autoimmune disease with involvement of multiple organs, including both glandular and extraglandular organs. Usually involvement of glandular organs manifests before the extraglandular ones, but when the sequence is reversed, diagnosis may be missed. Hypokalaemic quadriparesis in SS is not uncommon. Respiratory failure in hypokalaemia is not usually seen, but in SS, it has been reported. We report a case of a 55-year-old woman who presented with sudden onset flaccid quadriparesis and respiratory muscle paralysis secondary to severe hypokalaemia. On detailed investigation, she was detected to have distal renal tubular acidosis secondary to clinically inapparent and asymptomatic SS.
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Affiliation(s)
- Archita Makharia
- General Medicine, Dr Sampurnanand Medical College, Jodhpur, India
| | - Manoj Lakhotia
- General Medicine, Dr Sampurnanand Medical College, Jodhpur, India
| | - Mudita Gupta
- Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
| | - Pradeep Lalwani
- General Medicine, Dr Sampurnanand Medical College, Jodhpur, India
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Chen H, He C, You Z, Zhang S, He H, Chen XN, Wang S, Lin K, Guo Y. Association between urine pH and risk of contrast-associated acute kidney injury among patients after emergency percutaneous coronary intervention: a V-shape relationship? Clin Exp Nephrol 2021; 25:554-561. [PMID: 33428027 PMCID: PMC8038988 DOI: 10.1007/s10157-020-02015-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/27/2020] [Accepted: 12/24/2020] [Indexed: 12/16/2022]
Abstract
Aim We investigated whether perioperative urine pH was associated with contrast-associated acute kidney injury (CA-AKI) in patients undergoing emergency percutaneous coronary intervention (PCI). Methods The study enrolled 1109 consecutive patients undergoing emergency PCI. Patients were divided into three groups based on perioperative urine pH (5.0–6.0, 6.5– 7.0, 7.5–8.5). The primary endpoint was the development of CA-AKI, defined as an absolute increase ≥ 0.3 mg/dL or a relative increase ≥ 50% from baseline serum creatinine within 48 h after contrast medium exposure. Results Overall, 181 patients (16.3%) developed contrast-associated acute kidney injury. The incidences of CA-AKI in patients with urine pH 5.0–6.0, 6.5–7.0, and 7.5–8.5 were 19.7%, 9.8%, and 23.3%, respectively. After adjustment for potential confounding factors, perioperative urine pH 5.0–6.0 and 7.5–8.5 remained independently associated with CA-AKI [odds ratio (OR)1.86, 95% confidence interval (CI) 1.25–2.82, P = 0.003; OR 2.70, 95% CI 1.5–4.68, P < 0.001, respectively]. The association was consistent in subgroups of patients stratified by several CA-AKI risk predictors. However, the risk of CA-AKI associated with urine pH 7.5–8.5 was stronger in patients with worse renal function (estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73m2) (HR 5.587, 95% CI 1.178–30.599 vs. HR 2.487, 95% CI 1.331–4.579; overall interaction P < 0.05). Conclusion The urine pH and CA-AKI may underlie the V-shape relationship.
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Affiliation(s)
- Hanchuan Chen
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Chen He
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Zhebin You
- Fujian Key Laboratory of Geriatrics, Department of Geriatric Medicine, Fujian Provincial Hospital, Fujian Provincial Center for Geriatrics, Fujian Medical University, Fuzhou, 350001, China
| | - Sicheng Zhang
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Haoming He
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Xi Nan Chen
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Sunying Wang
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China
| | - Kaiyang Lin
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China.
| | - Yansong Guo
- Fujian Provincial Key Laboratory of Cardiovascular Disease, Department of Cardiology, Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, Fujian, China.
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Takedani K, Notsu M, Koike S, Yamauchi M, Mori T, Sohara E, Yamauchi A, Yoshikane K, Ito T, Kanasaki K. Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report. CEN Case Rep 2021; 10:294-300. [PMID: 33398781 DOI: 10.1007/s13730-020-00561-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2020] [Accepted: 11/26/2020] [Indexed: 10/22/2022] Open
Abstract
Osteomalacia is a systemic metabolic bone disease. Hypophosphatemia is one of the most important causes of impaired mineralization. Here, we describe a case of osteomalacia associated with atypical renal tubular acidosis. A 43-year-old woman was admitted to our hospital due to sustained unrelieved bilateral flank pain. She had a history of fragile fracture with vitamin D deficiency and had been treated with active vitamin D. On admission, she presented with hypophosphatemia, hypocalcemia, high bone-specific alkaline phosphatase level, bone pain, and low bone mineral density. Multiple areas of uptake were also confirmed by bone scintigraphy, and she was diagnosed with osteomalacia. An increased dose of alfacalcidol was initiated for her vitamin D deficiency; her symptoms remained unstable and unrelieved. Her blood gas examination revealed metabolic acidosis without an increase in the anion gap (HCO3- 11.8 mEq/L, anion gap 3.2 mEq/L). Tubular dysfunction, tubular damage, kidney stones, and inadequate urinary acidification were all observed, suggesting the presence of renal tubular acidosis from a combination of both distal and proximal origin. She also had overt proteinuria, decreased renal function, and hypothalamic hypogonadism. In addition to alfacalcidol, sodium bicarbonate and oral phosphorus supplementation were initiated. After this prescription, her pain dramatically improved in association with the restoration of acid-base balance and electrolytes; renal dysfunction and proteinuria were unaltered. This case indicated that careful assessments of tubular function and acid-base balance are essential for the management of osteomalacia in addition to the evaluation of the calcium/phosphate balance and vitamin D status.
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Affiliation(s)
- Kai Takedani
- Department of Internal Medicine 1, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan
| | - Masakazu Notsu
- Department of Internal Medicine 1, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan.
| | - Sayo Koike
- Department of Internal Medicine 1, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan
| | - Mika Yamauchi
- Department of Internal Medicine 1, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan
| | - Takayasu Mori
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan
| | - Eisei Sohara
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan
| | - Asuka Yamauchi
- Division of Nephrology, Shimane University Faculty of Medicine, Izumo, Shimane, Japan
| | - Kaori Yoshikane
- Division of Nephrology, Shimane University Faculty of Medicine, Izumo, Shimane, Japan
| | - Takafumi Ito
- Division of Nephrology, Shimane University Faculty of Medicine, Izumo, Shimane, Japan
| | - Keizo Kanasaki
- Department of Internal Medicine 1, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan.
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19
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Quade BN, Parker MD, Occhipinti R. The therapeutic importance of acid-base balance. Biochem Pharmacol 2021; 183:114278. [PMID: 33039418 PMCID: PMC7544731 DOI: 10.1016/j.bcp.2020.114278] [Citation(s) in RCA: 32] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2020] [Accepted: 10/06/2020] [Indexed: 02/06/2023]
Abstract
Baking soda and vinegar have been used as home remedies for generations and today we are only a mouse-click away from claims that baking soda, lemon juice, and apple cider vinegar are miracles cures for everything from cancer to COVID-19. Despite these specious claims, the therapeutic value of controlling acid-base balance is indisputable and is the basis of Food and Drug Administration-approved treatments for constipation, epilepsy, metabolic acidosis, and peptic ulcers. In this narrative review, we present evidence in support of the current and potential therapeutic value of countering local and systemic acid-base imbalances, several of which do in fact involve the administration of baking soda (sodium bicarbonate). Furthermore, we discuss the side effects of pharmaceuticals on acid-base balance as well as the influence of acid-base status on the pharmacokinetic properties of drugs. Our review considers all major organ systems as well as information relevant to several clinical specialties such as anesthesiology, infectious disease, oncology, dentistry, and surgery.
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Affiliation(s)
- Bianca N Quade
- Department of Physiology and Biophysics, The State University of New York, The University at Buffalo, Buffalo, NY 14203, USA
| | - Mark D Parker
- Department of Physiology and Biophysics, The State University of New York, The University at Buffalo, Buffalo, NY 14203, USA; Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, NY, USA; State University of New York Eye Institute, University at Buffalo, The State University of New York, Buffalo, NY, USA
| | - Rossana Occhipinti
- Department of Physiology and Biophysics, Case Western Reserve University, School of Medicine, Cleveland, OH 44106, USA.
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20
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Stumpff-Niggemann AY, Feldkamp T. [Metabolic acidosis]. Dtsch Med Wochenschr 2020; 145:1635-1650. [PMID: 33142331 DOI: 10.1055/a-0670-6038] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/23/2022]
Abstract
Acid-base disorders due to different etiologies are frequently encountered in daily clinical practice and may result in life-threatening situations. Basic knowledge of the diagnostic and therapeutic approach of acid-base disorders is therefore essential for every clinician. Acid-base disorders should be treated according to their underlying etiology. Therefore, diagnosis of the underlying etiology is the critical step in the process of care for patients with acid-base disorders. Undirected buffering with HCO3 - should be avoided, since the application of HCO3 - might lead to severe side effects. A strict diagnostic pathway for the diagnosis of acid-base disorders is required, which should be vigorously applied:- analysis of the pH to classify acidemia or alkalemia- analysis of pCO2 and HCO3 - to classify the primary acid base disorder- analysis of the adequate regulation in order to detect additional acid-base disorders- analysis of the anion gap and the relationship of the anion gap vs. the change in HCO3 - to detect further metabolic disordersMetabolic acidosis can be divided into two main etiologies:- acidosis with addition of acid with increased anion gap,- acidosis with loss of HCO3 - with normal anion gap.
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21
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Soares SBM, de Menezes Silva LAW, de Carvalho Mrad FC, Simões E Silva AC. Distal renal tubular acidosis: genetic causes and management. World J Pediatr 2019; 15:422-431. [PMID: 31079338 DOI: 10.1007/s12519-019-00260-4] [Citation(s) in RCA: 18] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/11/2019] [Accepted: 04/12/2019] [Indexed: 12/11/2022]
Abstract
BACKGROUND Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review aims to summarize the etiology, pathophysiology, clinical findings, diagnosis and therapeutic approach of dRTA, with emphasis on genetic causes of dRTA. DATA SOURCES Literature reviews and original research articles from databases, including PubMed and Google Scholar. Manual searching was performed to identify additional studies about dRTA. RESULTS dRTA is characterized as the dysfunction of the distal urinary acidification, leading to metabolic acidosis. In pediatric patients, the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels, whereas, in adult patients, dRTA is more commonly secondary to autoimmune diseases, use of medications and uropathies. Patients with dRTA exhibit failure to thrive and important laboratory alterations, which are used to define the diagnosis. The oral alkali and potassium supplementation can correct the biochemical defects, improve clinical manifestations and avoid nephrolithiasis and nephrocalcinosis. CONCLUSIONS dRTA is a multifactorial disease leading to several clinical manifestations. Clinical and laboratory alterations can be corrected by alkali replacement therapy.
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Affiliation(s)
- Sílvia Bouissou Morais Soares
- Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil
| | - Luiz Alberto Wanderley de Menezes Silva
- Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil
| | - Flávia Cristina de Carvalho Mrad
- Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil
- Pediatric Nephrology Unit, Faculty of Medicine, UFMG, Belo Horizonte, Brazil
| | - Ana Cristina Simões E Silva
- Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 190, Room # 281, Belo Horizonte, MG, 30130-100, Brazil.
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22
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Kashoor I, Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract 2019; 38:267-281. [PMID: 31474092 PMCID: PMC6727890 DOI: 10.23876/j.krcp.19.056] [Citation(s) in RCA: 23] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/21/2019] [Revised: 06/13/2019] [Accepted: 06/19/2019] [Indexed: 01/02/2023] Open
Abstract
Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO3−) reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to HCO3− wastage. In a normal kidney, the thick ascending limb of Henle’s loop and more distal nephron segments reclaim all of the HCO3− not absorbed by the proximal tubule. Bicarbonate wastage seen in type II RTA indicates that the proximal tubular defect is severe enough to overwhelm the capacity for HCO3− reabsorption beyond the proximal tubule. Proximal RTA can occur as an isolated syndrome or with other impairments in proximal tubular functions under the spectrum of Fanconi syndrome. Fanconi syndrome, which is characterized by a defect in proximal tubular reabsorption of glucose, amino acids, uric acid, phosphate, and HCO3−, can occur due to inherited or acquired causes. Primary inherited Fanconi syndrome is caused by a mutation in the sodium-phosphate cotransporter (NaPi-II) in the proximal tubule. Recent studies have identified new causes of Fanconi syndrome due to mutations in the EHHADH and the HNF4A genes. Fanconi syndrome can also be one of many manifestations of various inherited systemic diseases, such as cystinosis. Many of the acquired causes of Fanconi syndrome with or without proximal RTA are drug-induced, with the list of causative agents increasing as newer drugs are introduced for clinical use, mainly in the oncology field.
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Affiliation(s)
- Ibrahim Kashoor
- Division of Nephrology and Hypertension, Department of Medicine, The Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
| | - Daniel Batlle
- Division of Nephrology and Hypertension, Department of Medicine, The Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
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23
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Cakir Z, Yildirim C, Buran I, Önalan EE, Bal R. Acid-sensing ion channels (ASICs) influence excitability of stellate neurons in the mouse cochlear nucleus. J Comp Physiol A Neuroethol Sens Neural Behav Physiol 2019; 205:769-781. [PMID: 31451914 DOI: 10.1007/s00359-019-01365-x] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2019] [Revised: 08/08/2019] [Accepted: 08/13/2019] [Indexed: 02/06/2023]
Abstract
Acid-sensing ion channels (ASICs) are voltage-independent and proton-gated channels. In this study, we aimed to test the hypothesis whether ASICs might be involved in modifying the excitability of stellate cells in the cochlear nucleus (CN). We determined gene expressions of ASIC1, ASIC2 and ASIC3 in the CN of BALB/mice. ASIC currents in stellate cells were characterized by using whole-cell patch-clamp technique. In the voltage-clamp experiments, inward currents were recorded upon application of 2-[N-Morpholino ethanesulfonic acid]-normal artificial cerebrospinal fluid (MES-aCSF), whose pH 50 was 5.84. Amiloride inhibited the acid-induced currents in a dose-dependent manner. Inhibition of the ASIC currents by extracellular Ca2+ and Pb2+ (10 μM) was significant evidence for the existence of homomeric ASIC1a subunits. ASIC currents were increased by 20% upon extracellular application of Zn2+ (300 μM) (p < 0.05, n = 13). In current-clamp experiments, application of MES-aCSF resulted in the depolarization of stellate cells. The results show that the ASIC currents in stellate cells of the cochlear nucleus are carried largely by the ASIC1a and ASIC2a channels. ASIC channels affect the excitability of the stellate cells and therefore they appear to have a role in the processing of auditory information.
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Affiliation(s)
- Ziya Cakir
- Department of Physiology, Faculty of Medicine, Tokat Gaziosmanpasa University, 60250, Tokat, Turkey
| | - Caner Yildirim
- Department of Physiology, Faculty of Medicine, Kafkas University, 36100, Kars, Turkey
| | - Ilay Buran
- Department of Medical Biology, Faculty of Medicine, Firat University, 23100, Elazig, Turkey
| | - Ebru Etem Önalan
- Department of Medical Biology, Faculty of Medicine, Firat University, 23100, Elazig, Turkey
| | - Ramazan Bal
- Department of Physiology, Faculty of Medicine, Gaziantep University, 27310, Gaziantep, Turkey.
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24
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Abstract
Metabolic acidosis is defined as a pathologic process that, when unopposed, increases the concentration of hydrogen ions (H+) in the body and reduces the bicarbonate (HCO3-) concentration. Metabolic acidosis can be of a kidney origin or an extrarenal cause. Assessment of urinary ammonium excretion by calculating the urine anion gap or osmolal gap is a useful method to distinguish between these two causes. Extrarenal processes include increased endogenous acid production and accelerated loss of bicarbonate from the body. Metabolic acidosis of renal origin is due to a primary defect in renal acidification with no increase in extrarenal hydrogen ion production. This situation can occur because either the renal input of new bicarbonate is insufficient to regenerate the bicarbonate lost in buffering endogenous acid as with distal renal tubular acidosis (RTA) or the RTA of renal insufficiency, or the filtered bicarbonate is lost by kidney wasting as in proximal RTA. In either condition, because of loss of either NaHCO3 (proximal RTA) or NaA (distal RTA), effective extracellular volume is reduced and as a result the avidity for chloride reabsorption derived from the diet is increased and results in a hyperchloremic normal gap metabolic acidosis. The RTA of renal insufficiency is also characterized by a normal gap acidosis, however, with severe reductions in the glomerular filtration rate an anion gap metabolic acidosis eventually develops.
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Affiliation(s)
- Biff F Palmer
- Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA -
| | - Deborah J Clegg
- Department of Health Studies, College of Arts and Sciences, American University, Washington, DC, USA.,Diabetes and Obesity Research Institute, Cedars-Sinai Medical Center, University of California Los Angeles (UCLA), Los Angeles, CA, USA
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25
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Clinical practice recommendations for growth hormone treatment in children with chronic kidney disease. Nat Rev Nephrol 2019; 15:577-589. [PMID: 31197263 PMCID: PMC7136166 DOI: 10.1038/s41581-019-0161-4] [Citation(s) in RCA: 102] [Impact Index Per Article: 17.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 04/24/2019] [Indexed: 12/23/2022]
Abstract
Achieving normal growth is one of the most challenging problems in the management of children with chronic kidney disease (CKD). Treatment with recombinant human growth hormone (GH) promotes longitudinal growth and likely enables children with CKD and short stature to reach normal adult height. Here, members of the European Society for Paediatric Nephrology (ESPN) CKD–Mineral and Bone Disorder (MBD), Dialysis and Transplantation working groups present clinical practice recommendations for the use of GH in children with CKD on dialysis and after renal transplantation. These recommendations have been developed with input from an external advisory group of paediatric endocrinologists, paediatric nephrologists and patient representatives. We recommend that children with stage 3–5 CKD or on dialysis should be candidates for GH therapy if they have persistent growth failure, defined as a height below the third percentile for age and sex and a height velocity below the twenty-fifth percentile, once other potentially treatable risk factors for growth failure have been adequately addressed and provided the child has growth potential. In children who have received a kidney transplant and fulfil the above growth criteria, we recommend initiation of GH therapy 1 year after transplantation if spontaneous catch-up growth does not occur and steroid-free immunosuppression is not a feasible option. GH should be given at dosages of 0.045–0.05 mg/kg per day by daily subcutaneous injections until the patient has reached their final height or until renal transplantation. In addition to providing treatment recommendations, a cost-effectiveness analysis is provided that might help guide decision-making. This Evidence-Based Guideline developed by members of the European Society for Paediatric Nephrology CKD-MBD, Dialysis and Transplantation working groups presents clinical practice recommendations for the use of growth hormone in children with chronic kidney disease on dialysis and after renal transplantation.
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