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Salimkhanov R, Bondarenko E, Eremkina A, Bibik E, Kim E, Begova K, Kim I, Kuznetsov S, Mokrysheva N. Case report: Sagliker syndrome in the patient with recurrent tertiary hyperparathyroidism due to intrathyroidal parathyroid carcinoma. Front Endocrinol (Lausanne) 2024; 14:1292993. [PMID: 38250739 PMCID: PMC10796468 DOI: 10.3389/fendo.2023.1292993] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/13/2023] [Accepted: 12/13/2023] [Indexed: 01/23/2024] Open
Abstract
Sagliker syndrome (SS) is an extremely rare disorder that manifests in patients with advanced chronic kidney disease (CKD) undergoing programmed hemodialysis as a renal replacement therapy. Treatment of secondary hyperparathyroidism (SHPT) in these patients is still challenging. The main clinical manifestations of SS include craniofacial and fingertip deformities, dental anomalies, gingival hyperplasia, short stature, hearing loss, neurological and psychiatric impairment. The etiology and pathogenesis of SS in patients with SHPT require further clarification. However, mutations in the GNAS1, FGF23, and FGFR3 genes were described in some patients, suggesting a possible role of genetic predisposition to the syndrome. The preferred therapeutic approach for SS is surgery, but the volume of the operation is debated. The main surgical strategies include total, subtotal parathyroidectomy, or total parathyroidectomy with autotransplantation of the parathyroid gland (PG). Unfortunately, parathyroidectomy does not contribute to the regression of significant skeletal deformities. We present a unique clinical case of a patient with classical features of SS, recurrent tertiary hyperparathyroidism (THPT) after total parathyroidectomy due to intrathyroidal parathyroid carcinoma (PC).
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Affiliation(s)
- Rustam Salimkhanov
- Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia
| | | | - Anna Eremkina
- Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia
| | - Ekaterina Bibik
- Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia
| | - Ekaterina Kim
- Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia
| | - Kamila Begova
- Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia
| | - Ilya Kim
- Department of Endocrine Surgery, Endocrinology Research Center, Moscow, Russia
| | - Sergey Kuznetsov
- Department of Endocrine Surgery, Endocrinology Research Center, Moscow, Russia
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Ahmad I, Alkomi S, Sharaha R, Manasrah S, Dukmak ON. Sagliker Syndrome in a Patient With Secondary Hyperparathyroidism and Chronic Kidney Disease: A Case Report From Palestine. Cureus 2024; 16:e51956. [PMID: 38333487 PMCID: PMC10852203 DOI: 10.7759/cureus.51956] [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] [Accepted: 01/09/2024] [Indexed: 02/10/2024] Open
Abstract
Sagliker syndrome (SS) is a rare complication in patients with chronic kidney disease (CKD) on prolonged dialysis due to uncontrolled secondary hyperparathyroidism (SHPT). SS manifests with a constellation of clinical manifestations, including short stature, craniomaxillofacial abnormalities, hearing loss, and neuropsychiatric disorders. This article reports a 33-year-old male patient with CKD who complained of progressive disfiguring facial changes, multiple recurrent fractures, and shortened height. The condition affects his quality of life. On workup, his lab results showed highly elevated serum levels of parathyroid hormone, alkaline phosphatase (ALP), calcium, and phosphate. His comorbidities and poor health status limit his ability to do parathyroidectomy (Ptx). A reliable diagnostic approach must be considered, enabling physicians to make earlier interventions and get better outcomes.
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Affiliation(s)
- Ibtihal Ahmad
- Nephrology, Internal Medicine, School of Medicine, Palestine Polytechnic University, Hebron, PSE
| | - Saja Alkomi
- Nephrology, Internal Medicine, School of Medicine, Palestine Polytechnic University, Hebron, PSE
| | - Rula Sharaha
- Nephrology, Internal Medicine, School of Medicine, Palestine Polytechnic University, Hebron, PSE
| | - Shaheera Manasrah
- Nephrology, Internal Medicine, School of Medicine, Palestine Polytechnic University, Hebron, PSE
| | - Osama N Dukmak
- Nephrology, Internal Medicine, School of Medicine, Al-Quds University, Jerusalem, PSE
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Sabanis N, Paschou E, Drylli A, Papanikolaou P, Zagkotsis G. Uremic Leontiasis Ossea: Theoretical Concepts and Practical Considerations. SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION 2022; 33:702-715. [PMID: 37955462 DOI: 10.4103/1319-2442.389430] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2023] Open
Abstract
Leontiasis ossea (LO) in chronic kidney disease patients, also known as Sagliker syndrome, is an exceptionally uncommon uremic complication of long-lasting and severe secondary hyperparathyroidism. The prominent features of uremic LO (ULO) encompass the characteristic clinical trial of massive thickening of maxillary and mandibular bones, widening of interdental spaces, and flattening of nasal bridges and nares. Moreover, during the transformation of craniofacial architecture, significant structural and functional consequences may appear, including upper airway patency, visual and hearing acuity, oral phase of swallowing as well as various neurological and psychiatric disorders. Only few cases of ULO have been reported in the literature until now, making challenging not only the traditional diagnostic procedures but also the optimal therapeutic approach. In this narrative review, we aim to explore the underlying pathophysiological mechanisms, summarize the evidence for adverse outcomes, and highlight the current therapeutic strategies for ULO prevention and treatment, given that precise genetic determinants remain elusive.
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Affiliation(s)
- Nikolaos Sabanis
- Department of Nephrology, General Hospital of Livadia, Livadia, Greece
| | - Eleni Paschou
- Department of General Practice and Family Medicine, Medical Unit of St George, Livadia, Greece
| | - Aikaterini Drylli
- Department of Otorhinolaryngology, National and Kapodistrian University of Athens, Athens, Greece
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Tassin C, Moscatelli L, Di Ascia L, Vacher-Coponat H, Gosset C. Reversible bone deformities in a severe case of uremic Leontiasis Ossea. J Nephrol 2021; 35:357-359. [PMID: 33507522 DOI: 10.1007/s40620-021-00968-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/17/2020] [Accepted: 01/04/2021] [Indexed: 10/22/2022]
Affiliation(s)
- Claire Tassin
- Department of Nephrology and Kidney Transplantation, Felix Guyon Hospital, Service de Néphrologie et Tranplantation, Allée des Topazes, Saint-Denis, France
| | - Lucas Moscatelli
- Department of Radiology, Felix Guyon Hospital, Saint-Denis, France
| | - Ludovic Di Ascia
- Department of Nephrology and Kidney Transplantation, Felix Guyon Hospital, Service de Néphrologie et Tranplantation, Allée des Topazes, Saint-Denis, France
| | - Henri Vacher-Coponat
- Department of Nephrology and Kidney Transplantation, Felix Guyon Hospital, Service de Néphrologie et Tranplantation, Allée des Topazes, Saint-Denis, France
| | - Clément Gosset
- Department of Nephrology and Kidney Transplantation, Felix Guyon Hospital, Service de Néphrologie et Tranplantation, Allée des Topazes, Saint-Denis, France.
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Abstract
In this report, we present a case of a patient with a history of complex airway anatomy secondary to Sagliker syndrome (SS) who presented with acute exacerbation of chronic respiratory failure. The patient's difficult airway, complicated medical comorbidities, and poor psychosocial status posed a unique challenge for providing safe care during an emergency. The perioperative anesthesia service (PAS), led by critical care anesthesiologists, coordinated a multidisciplinary airway management plan. The PAS team also assisted this medically complex patient with her decision-making process. A 37-year-old female with SS, which is characterized by irreversible disfiguring of head and neck anatomy secondary to end-stage renal disease (ESRD) and poorly controlled hyperparathyroidism, presented with acute exacerbation of chronic respiratory failure due to hypervolemia. The patient's respiratory status rapidly deteriorated despite aggressive hemodialysis, requiring transfer to the ICU. Given the challenging anatomy and poor respiratory reserve in this patient, the PAS team helped coordinate a comprehensive airway plan that involved transnasal fiberoptic intubation, and in case of emergency, extracorporeal membrane oxygenation (ECMO) as a bridge to a surgical airway. During the decision-making process, the patient was found to be in psychological distress and had limited insights into her condition. The PAS team helped facilitated multidisciplinary goals-of-care discussions for the patient and her family. Fortunately, the patient's oxygenation improved with noninvasive oxygen support and aggressive hemodialysis without the need for intubation. She was discharged with outpatient follow-up appointments arranged to discuss long-term management. This is the first reported case of SS in the United States. The early involvement by the PAS team helped coordinate a multidisciplinary care plan for this patient with a difficult airway and complex comorbidities. This report highlights an innovative airway algorithm for a potentially "cannot-intubate, cannot ventilate" complex airway, and the PAS team's role in providing support for the patient's physical and psychological needs, suggesting that a comprehensive perioperative service can improve the quality and safety of care, not only for surgical patients but also for medically complex patients as well.
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Affiliation(s)
- QiLiang Chen
- Department of Anesthesiology, Stanford University, Stanford, USA
| | - Javier Lorenzo
- Department of Anesthesiology, Stanford University, Stanford, USA
| | - Amy Lu
- Department of Anesthesiology, Stanford University, Stanford, USA
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Yu Y, Zhu CF, Fu X, Xu H. Sagliker syndrome: A case report of a rare manifestation of uncontrolled secondary hyperparathyroidism in chronic renal failure. World J Clin Cases 2019; 7:3792-3799. [PMID: 31799306 PMCID: PMC6887613 DOI: 10.12998/wjcc.v7.i22.3792] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/12/2019] [Revised: 10/03/2019] [Accepted: 10/15/2019] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Sagliker syndrome (SS) resulting from uncontrolled secondary hyperparathyroidism (SHPT) in chronic renal failure (CRF) is seldom reported.
CASE SUMMARY A 24-year-old woman presented with asymmetric facial deformity and stature shortening. She was diagnosed with SS, SHPT, CRF, and thyroid cancer. The patient underwent a total parathyroidectomy and thyroidectomy with central lymph node dissection. The patient’s condition was stable and was discharged from the hospital.
CONCLUSION Undergoing dialysis vintage, presenting high serum phosphate levels, and female gender may be risk factors for SS. Intramembranous ossification in the craniomaxillofacial region is possibly activated in this special pathophysiological condition. What’s more, the choice of surgery mainly depends on the treatment goal and the experience of the individual surgeon.
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Affiliation(s)
- Yu Yu
- Department of General Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Discipline Construction Research Center of China Hospital Development Institute, Shanghai Jiao Tong University, Shanghai 200011, China
| | - Chen-Fang Zhu
- Department of General Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Discipline Construction Research Center of China Hospital Development Institute, Shanghai Jiao Tong University, Shanghai 200011, China
| | - Xiao Fu
- Department of General Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Discipline Construction Research Center of China Hospital Development Institute, Shanghai Jiao Tong University, Shanghai 200011, China
| | - Hua Xu
- Department of General Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Discipline Construction Research Center of China Hospital Development Institute, Shanghai Jiao Tong University, Shanghai 200011, China
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Tunç E, Demirhan O, Sağliker Y, Yildiz İ, Paylar N, Güzel Aİ. Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome. Turk J Med Sci 2017; 47:13-21. [PMID: 28263480 DOI: 10.3906/sag-1507-102] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/13/2015] [Accepted: 01/28/2016] [Indexed: 12/29/2022] Open
Abstract
BACKGROUND/AIM Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3. MATERIALS AND METHODS Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. RESULTS We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. CONCLUSION There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS.
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Affiliation(s)
- Erdal Tunç
- Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey
| | - Osman Demirhan
- Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey
| | - Yahya Sağliker
- Department of Internal Medicine, Faculty of Medicine, Çukurova University, Adana, Turkey
| | | | - Nuray Paylar
- Department of Internal Medicine, Faculty of Medicine, Çukurova University, Adana, Turkey
| | - Ali İrfan Güzel
- Department of Medical Biology and Genetics, Faculty of Medicine, Recep Tayyip Erdoğan University, Rize, Turkey
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Demirhan O, Arslan A, Sagliker Y, Akbal E, Ergun S, Bayraktar R, Sagliker HS, Dogan E, Gunesacar R, Ozkaynak PS. Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome. J Ren Nutr 2015; 25:176-86. [PMID: 25701941 DOI: 10.1053/j.jrn.2014.12.008] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/16/2014] [Revised: 12/22/2014] [Accepted: 12/22/2014] [Indexed: 12/26/2022] Open
Abstract
Sagliker syndrome (SS) develops particularly before puberty while chronic kidney disease (CKD) reaches stage 3 with overt secondary hyperparathyroidism. We conducted screening for mutations in all the 13 exons of GNAS1 gene, all 3 exons of FGF23, and all 18 exons in FGFR3 genes in 23 patients. In 73.9% (17 of 23) patients, 17 genetic abnormalities in GNAS1 were detected. Seven (58.3%) of 12 nucleotide alterations comprised novel missense mutations and 3 nonsense. Mismutations were in different manner. There were also 6 heterozygous transversion polymorphisms in exons. Six were introngenic mutations (introns 65626, 70387, 70817). We found 10 mutations with different manner in FGF23 gene. Two were defined previously but remaining 8 were novel mutations. Three were in intronic region near exon 2. We sequenced all exons and intronic regions near exon-exon junction regions of FGFR3 gene. We found 22 mutations with different manner. Six were defined previously and remaining 16 were novel mutations. Eight of them were in intronic region near exon 11 and the last 2 were in noncoding exonic region of exons. One was in the exon-exon junction region between exon 11 and 12, therefore this mutation might be preventing splicing of this intron. Because the incidence of CKD late stage 3 is around 8% but the incidence of SS is around 0.5% in CKD, these gene mismutations might be responsible for bone deformities such as McCune-Albright syndrome and achondroplasias. Although our patients were not resembling any of them, they could be in between, and SS might be a combination-compulsion of bone dysplasias-hereditary osteodystrophies and CKD.
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Affiliation(s)
| | | | - Yahya Sagliker
- Sagliker Hypertension and Nephrology Unit, Adana, Turkey.
| | | | | | | | | | - Ekrem Dogan
- Sutcu Imam University, Kahramanmaras, Turkey
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Lopes MLDDS, Albuquerque AFM, Germano AR, Queiroz LMG, Miguel MCDC, da Silveira ÉJD. Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease. Oral Maxillofac Surg 2015; 19:321-327. [PMID: 25784153 DOI: 10.1007/s10006-015-0490-9] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/07/2014] [Accepted: 03/09/2015] [Indexed: 06/04/2023]
Abstract
Renal osteodystrophy (ROD) is the bone pathology that occurs as an uncommon complication related to the several alterations in mineral metabolism present in patients with chronic kidney disease (CKD). This paper describes two cases of severe ROD affecting the maxilla and mandible and causing facial disfigurement of a young and a middle-aged female patient with CKD. Both patients had a history of secondary hyperparathyroidism, previously treated by surgery. The pathogenesis of the disease, as well as its clinical, imaging, and histopathological features, and management of the patient are discussed.
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Affiliation(s)
- Maria Luiza Diniz de Sousa Lopes
- Postgraduate Program in Oral Pathology, Dentistry Department, Federal University of Rio Grande do Norte, Avenida Salgado Filho, 1787-Lagoa Nova, Natal, RN, CEP 59.056-000, Brazil,
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10
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Mejía Pineda A, Aguilera ML, Meléndez HJ, Lemus JA, Peñalonzo MA. Sagliker syndrome in patients with secondary hyperparathyroidism and chronic renal failure: Case report. Int J Surg Case Rep 2015; 8C:127-30. [PMID: 25661637 PMCID: PMC4353958 DOI: 10.1016/j.ijscr.2015.01.044] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2014] [Revised: 01/22/2015] [Accepted: 01/23/2015] [Indexed: 12/28/2022] Open
Abstract
Sagliker syndrome is assumed to result from insufficient treatment of secondary hyperparathyroidism in early stages of chronic renal failure. Sagliker syndrome should be added to current surgical indications for parathyroidectomy. Introduction Sagliker described craniofacial, skeletal, neurologic and soft tissue abnormalities in patients with secondary hyperparathyroidism with end-stage chronic renal disease. This unique entity has been attributed to delay in treatment of renal insufficiency. As of 2012 sixty cases have been reported. The aim of the study is to report this entity in five patients and to propose this condition as an indication for parathyroidectomy. Methods We report five patients. All patients had chronic renal failure (CRF) and secondary hyperparathyroidism that fulfilled the criteria for Sagliker syndrome and underwent parathyroid surgery. We collected detailed information, including clinical history, laboratory data, and old/current photographs for comparison. Results The five patients, four women and one man mean age 21 years, had severe secondary hyperparathyroidism (mean serum preoperative PTH = 3779.6 pg/ml, mean preoperative Ca2+ = 8.83 mg/dl and P3– = 5.66 mg/dl); maxillary and mandibular bone changes; teeth/dental abnormalities; and soft and benign tumors in the mouth. Three had severe uglifying facial appearance. All patients underwent total parathyroidectomy without postoperative complications. After surgery mean serum PTH was 17.16 pg/ml (p = 0.006), P3− = 3.38 mg/dl (p = 0.0068) and Ca2+ = 6.97 mg/dl (p = 0.345). At surgery, average height was 149.8 cm, a mean of 6 cm (p = 0.003) less than at the beginning of CRF. Preoperative Beck Depression Inventory test mean score was 37 (severe depression); 6 months after surgery mean score was 15.8 (mild mood disturbance)(p = 0.0001). Clinical follow-up was satisfactory with a mean follow up time of 14 months. Conclusion We consider that Sagliker syndrome should be added to current surgical indications for parathyroidectomy.
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Affiliation(s)
- Ana Mejía Pineda
- Fellow Endocrine Surgery, Universidad Francisco Marroquín, Guatemala.
| | | | | | - José A Lemus
- Medical Doctor, Universidad Francisco Marroquín, Guatemala.
| | - Marco A Peñalonzo
- Director Endocrine Surgery Fellowship, Universidad, Francisco Marroquín, Guatemala.
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Yavascan O, Kose E, Alparslan C, Sirin Kose S, Bal A, Kanik A, Aksu N. Severe Renal Osteodystrophy in a Pediatric Patient With End-Stage Renal Disease: Sagliker Syndrome? J Ren Nutr 2013; 23:326-30. [DOI: 10.1053/j.jrn.2012.07.002] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/11/2012] [Revised: 06/11/2012] [Accepted: 07/11/2012] [Indexed: 12/26/2022] Open
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Yildiz I, Sagliker Y, Demirhan O, Tunc E, Inandiklioglu N, Tasdemir D, Acharya V, Zhang L, Golea O, Sabry A, Ookalkar DS, Capusa C, Radulescu D, Garneata L, Mircescu G, Ben Maiz H, Chen CH, Prado Rome J, Benzegoutta M, Paylar N, Eyuboglu K, Karatepe E, Esenturk M, Yavascan O, Grzegorzevska A, Shilo V, Mazdeh MM, Francesco RC, Gouda Z, Adam SM, Emir I, Ocal F, Usta E, Kiralp N, Sagliker C, Ozkaynak PS, Sagliker HS, Bassuoni M, Sekin O. International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. J Ren Nutr 2012; 22:157-61. [PMID: 22200434 DOI: 10.1053/j.jrn.2011.10.030] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/12/2011] [Accepted: 10/13/2011] [Indexed: 12/21/2022] Open
Abstract
Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS.
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Erkan AN, Sagliker Y, Yildiz I, Ozluoglu L. Audiological findings in chronic kidney disease patients with Sagliker syndrome. J Ren Nutr 2011; 20:S56-8. [PMID: 20797572 DOI: 10.1053/j.jrn.2010.06.002] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022] Open
Abstract
Potential hearing loss was found to be high in a 10 patients with chronic kidney disease and Sagliker syndrome. The cause of hearing loss in these subjects remains unknown. We do not know whether those are the results of preexisting renal disease, hemodialysis, or other factors. Thus, future studies will include more subjects with Sagliker syndrome to determine the frequency of hearing loss and to investigate the etiologic factors that cause loss of hearing.
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Affiliation(s)
- Alper N Erkan
- Department of Otorhinolaryngology, Baskent University Faculty of Medicine, Ankara, Turkey
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Ozenli Y, Giray S, Sagliker Y, Adam SM. A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome. J Ren Nutr 2011; 20:S51-5. [PMID: 20797571 DOI: 10.1053/j.jrn.2010.06.001] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023] Open
Abstract
Sagliker syndrome (SS) is a novel syndrome that was described in 2004 in patients with chronic kidney disease (CKD). The aim of this study was to assess psychiatric evaluations and electroencephalography (EEG) findings of patients with CKD and SS to compare them with patients with CKD having characteristics similar to that of the study group, in terms of age and gender. The study group comprised 13 patients with CKD and SS. The control group included 13 patients with CKD. Psychiatric diseases were diagnosed using the Structure Clinical Interview. Beck Depression Inventory, Beck Anxiety Inventory, Social Comparison Scale, Hopelessness Scale, and Mini Mental State Examination (MMSE) were administered to the groups. Moreover, EEG recording for all the patients was performed. According to the results obtained from the Structure Clinical Interview, 69.2% of patients with CKD and SS were diagnosed with a mental disease, as compared with only 3 (23.1%) patients with CKD. There was a significant difference between the study and the control group (P < .001). As compared with the control group, patients with CKD and SS had significantly higher scores on the Beck Depression Inventory, the Beck Anxiety Inventory, and the Hopelessness Scale. However, patients with CKD and SS had significantly lower scores on the Social Comparison Scale. The MMSE scores were not significantly different between the 2 groups. When the 2 groups were evaluated separately, no significant differences were found between the EEG abnormalities and psychiatric diagnosis of both the groups. However, an evaluation of EEG abnormalities in all cases with CKD suggested a statistically significant difference between them. In the EEG recordings, electrical seizures activity was not enrolled in any of the cases. In the present study, psychiatric morbidity for patients with CKD and SS was worse than for patients with only CKD. These results indicate a need to develop an effective psychologic strategy for dealing with psychiatric disorders among patients with CKD and SS.
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Affiliation(s)
- Yarkin Ozenli
- Department of Psychiatry, Faculty of Medicine, Baskent University, Ankara, Turkey
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Sagliker Y, Acharya V, Ling Z, Golea O, Sabry A, Eyupoglu K, Ookalkar DS, Tapiawala S, Durugkar S, Khetan P, Capusa C, Univar R, Yildiz I, Cengiz K, Bali M, Ozkaynak PS, Sagliker HS, Paylar N, Adam SM, Balal M, Paydas S, Demirhan O, Tasdemir D, Maiz HB, Redulescu D, Garneata L, Mircescu G, Hong-Liang R, Lun L, Yildizer K, Emir I, Yuksekgonul M, Yenicerioglu Y, Akar H, Sagliker C, Esenturk M, Kiralp N. International Study on Sagliker Syndrome and Uglifying Human Face Appearence in Severe and Late Secondary Hyperparathyroidism in Chronic Kidney Disease Patients. J Ren Nutr 2008; 18:114-7. [DOI: 10.1053/j.jrn.2007.10.023] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022] Open
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Uzel A, Uzel I, Sagliker Y, Yildiz I, Halvaci I, Paylar N, Ocal F, Balal M, Ozkaynak PS, Paydas S, Sagliker C, Sagliker HS, Kiralp N, Adam SM, Esenturk M, Gocmez E, Taskapan H, Yuksekgonul M, Emir I, Guler T, Yakar H, Sekin O, Kayali E, Caliskan S, Eskiocak AF, Ogruk B, Guzelyurt T, Kurt C. Cephalometric evaluation of patients with Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients. J Ren Nutr 2006; 16:229-32. [PMID: 16825025 DOI: 10.1053/j.jrn.2006.04.019] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022] Open
Abstract
It is well known that secondary hyperparathyroidism may be an extremely severe condition in chronic renal failure, and almost all patients with chronic kidney disease, even in the well-developed countries, encounter every kind of bone abnormalities if they are not treated properly. Although some sporadic cases have been reported of unique facial bone changes, the largest collection of this phenomenon has been reported by Sagliker et al. We also have found 6 of 9 patients who have these changes (Sagliker syndrome) to manifest class II malocclusion of the upper and lower jaws according to dental universally accepted criteria by performing cephalometric studies, x-ray plain films, tomographic procedures, and drawing technology.
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Affiliation(s)
- Asli Uzel
- Cukurova University Dentistry Faculty, Adana, Turkey
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