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Kwon YJ, Yoo SY, Jeon TY, Kim JH, Park JE. Clinical and Imaging Features of Cystic Fibrosis in Korean Children. JOURNAL OF THE KOREAN SOCIETY OF RADIOLOGY 2023; 84:1257-1265. [PMID: 38107683 PMCID: PMC10721430 DOI: 10.3348/jksr.2023.0074] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 06/16/2023] [Revised: 07/15/2023] [Accepted: 08/21/2023] [Indexed: 12/19/2023]
Abstract
Cystic fibrosis (CF) is a fatal hereditary disorder that primarily affects Caucasians and is rare in Asian populations, including Koreans. Diagnosing CF is often challenging and delayed owing to its rarity and its overlapping features with non-CF diseases, ultimately affecting the patient prognosis. Radiologists can provide initial clues for clinically unsuspected cases and play a crucial role in establishing an early childhood diagnosis. This pictorial essay reviews the clinical and imaging features of genetically confirmed CF in Korean children and increases awareness of this rare disease, thereby facilitating early diagnosis.
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Hamed DH, Ibrahim RSM, Hakim MA, Mohsen M. Insight into clinical, laboratory, and GIT ultrasound diagnostic findings of cystic fibrosis in pediatrics. EGYPTIAN PEDIATRIC ASSOCIATION GAZETTE 2022. [DOI: 10.1186/s43054-022-00129-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/29/2022] Open
Abstract
Abstract
Background
Cystic fibrosis (CF) is a multisystem disorder. Gastrointestinal tract (GIT) involvement presently requires medical attention, and this improves the survival rate of patients with CF. GIT imaging has an essential role in the early detection of GIT affection. This study aimed to quantify the abdominal symptoms and their relationship to clinical findings, abdominal ultrasound scoring system, and laboratory parameters, correlating GIT manifestation with ultrasound diagnostic findings.
Methods
This was a cross-sectional study that included 60 patients diagnosed with CF based on clinical manifestations and confirmed by a positive sweat chloride test ≥ 60 mmol/L and/or genetic analysis (CFTR gene mutation; a copy from each parent) in the CF clinic in the Children’s Hospital, in a period of 12 months.
Results
Recurrent abdominal pain (RAP) was the most common GIT manifestation, followed by abdominal distension and steatorrhea. Ultrasonography (US) showed that the most frequent findings were pancreatic lipomatosis in 16 patients (26.7%), the next common finding was heterogeneous coarse hepatic parenchyma in 14 patients (23.3%), while the least finding was the thickened bowel walls in 2 patients (3.3%). Abdominal US scoring revealed that the highest burden of GIT symptoms was clearly associated with pancreatic lipomatosis and liver steatosis with the highest score (6/7) (p = 0.048), while bowel wall thickness (BWT) had the lowest score (3/7) (Table 4).
Conclusion
This study reveals that abdominal US is a non-invasive investigation that helps in the early detection of GIT involvement in CF. RAP is a common GIT manifestation and may reflect a major pathology. Moreover, a significant relationship was detected between RAP and pancreatic cystosis and lipomatosis. Therefore, the study also highlights the importance of US as a routine non-invasive follow-up tool for patients with CF and suggests close monitoring of patients with CF by abdominal US performed every 6 to 12 months.
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Choi G, Je BK, Kim YJ. Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay. Korean J Radiol 2022; 23:124-138. [PMID: 34983099 PMCID: PMC8743148 DOI: 10.3348/kjr.2021.0111] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/03/2021] [Revised: 08/29/2021] [Accepted: 09/13/2021] [Indexed: 02/02/2023] Open
Abstract
Gastrointestinal (GI) emergencies in neonates and infants encompass from the beginning to the end of the GI tract. Both congenital and acquired conditions can cause various GI emergencies in neonates and infants. Given the overlapping or nonspecific clinical findings of many different neonatal and infantile GI emergencies and the unique characteristics of this age group, appropriate imaging is key to accurate and timely diagnosis while avoiding unnecessary radiation hazard and medical costs. In this paper, we discuss the radiological findings of essential neonatal and infantile GI emergencies, including esophageal atresia and tracheoesophageal fistula, hypertrophic pyloric stenosis, duodenal atresia, malrotation, midgut volvulus for upper GI emergencies, and jejunoileal atresia, meconium ileus, meconium plug syndrome, meconium peritonitis, Hirschsprung disease, anorectal malformation, necrotizing enterocolitis, and intussusception for lower GI emergencies.
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Affiliation(s)
- Gayoung Choi
- Department of Radiology, Korea University Ansan Hospital, Ansan, Korea
| | - Bo-Kyung Je
- Department of Radiology, Korea University Ansan Hospital, Ansan, Korea.
| | - Yu Jin Kim
- Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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Piskin FC, Yavuz S, Kose S, Cagli C, Dogruel D, Tumgor G, Aikimbaev K. A comparative study of the pancreas in pediatric patients with cystic fibrosis and healthy children using two-dimensional shear wave elastography. J Ultrasound 2020; 23:535-542. [PMID: 32034705 PMCID: PMC7588563 DOI: 10.1007/s40477-020-00432-3] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/23/2019] [Accepted: 01/23/2020] [Indexed: 12/17/2022] Open
Abstract
PURPOSE To compare sonographic parameters of the pancreas between healthy children and pediatric cystic fibrosis (CF) patients with pancreatic involvement using shear wave elastography (SWE) and to investigate the efficacy of SWE in the diagnosis of pancreatic involvement in pediatric CF patients. METHODS The pancreas was evaluated in 38 patients with CF and 38 healthy children using conventional B-mode ultrasonography (US) and two-dimensional (2D)-SWE. RESULTS The pancreatic 2D-SWE values of the CF group were significantly lower than those of the healthy control group (1.01 ± 0.16 vs. 1.31 ± 0.01 m/s for the head, 1.03 ± 0.05 vs. 1.28 ± 0.08 m/s for the pancreatic body, and 1.02 ± 0.05 vs. 1.30 ± 0.10 m/s for the tail; p < 0.005 for all the comparisons). When the threshold values were obtained for the pancreatic head, body, and tail segments for the differentiation of the CF patients and healthy controls, the sensitivity of the test was determined as 81.5%, 76.3%, and 73.3%, respectively, and the specificity as 97.3%, 100%, and 100%, respectively. When the patients were divided into two groups based on the presence of B-mode US characteristics (homogeneity, sharp demarcation, and hyperechoic pancreas), there was a significant difference in the 2D-SWE values of the pancreatic head between the patients with and the patients without these characteristics (p = 0.048 for homogeneity, p = 0.021 for sharp demarcation, and p = 0.006 for hyperechoic pancreas). CONCLUSION The measurement of 2D-SWE values was found to be an easily applicable non-invasive test with high sensitivity and specificity for the demonstration of changes in the pancreas of pediatric CF patients.
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Affiliation(s)
- Ferhat Can Piskin
- Department of Radiology, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey.
| | - Sibel Yavuz
- Department of Pediatric Gastroenterology, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey
| | - Sevgul Kose
- Department of Radiology, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey
| | - Cagla Cagli
- Department of Pediatrics, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey
| | - Dilek Dogruel
- Department of Pediatric Allergy and Immunology, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey
| | - Gokhan Tumgor
- Department of Pediatric Gastroenterology, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey
| | - Kairgeldy Aikimbaev
- Department of Radiology, Balcali Hospital, Cukurova University Medical Faculty, Adana, Turkey
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Kutney K, Donnola SB, Flask CA, Gubitosi-Klug R, O’Riordan M, McBennett K, Sferra TJ, Kaminski B. Lumacaftor/ivacaftor therapy is associated with reduced hepatic steatosis in cystic fibrosis patients. World J Hepatol 2019; 11:761-772. [PMID: 31966908 PMCID: PMC6960296 DOI: 10.4254/wjh.v11.i12.761] [Citation(s) in RCA: 34] [Impact Index Per Article: 5.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/04/2019] [Revised: 10/28/2019] [Accepted: 11/26/2019] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Hepatic steatosis is a common form of cystic fibrosis associated liver disease (CFLD) seen in an estimated 15%-60% of patients with cystic fibrosis (CF). The pathophysiology and health implications of hepatic steatosis in cystic fibrosis remain largely unknown. In the general population, hepatic steatosis is strongly associated with insulin resistance and type 2 diabetes. Cystic fibrosis related diabetes (CFRD) impacts 40%-50% of CF adults and is characterized by both insulin insufficiency and insulin resistance. We hypothesized that patients with CFRD would have higher levels of hepatic steatosis than cystic fibrosis patients without diabetes.
AIM To determine whether CFRD is associated with hepatic steatosis and to explore the impact of lumacaftor/ivacaftor therapy on hepatic steatosis in CF.
METHODS Thirty patients with CF were recruited from a tertiary care medical center for this cross-sectional study. Only pancreatic insufficient patients with CFRD or normal glucose tolerance (NGT) were included. Patients with established CFLD, end stage lung disease, or persistently elevated liver enzymes were excluded. Mean magnetic resonance imaging (MRI) proton density fat fraction (PDFF) was obtained for all participants. Clinical characteristics [age, sex, body mass index, percent predicted forced expiratory volume at 1 s (FEV1), lumacaftor/ivacaftor use] and blood chemistries were assessed for possible association with hepatic steatosis. Hepatic steatosis was defined as a mean MRI PDFF > 5%. Patients were grouped by diabetes status (CFRD, NGT) and cystic fibrosis transmembrane conductance regulator (CFTR) modulator use (lumacaftor/ivacaftor, no lumacaftor/ivacaftor) to determine between group differences. Continuous variables were analyzed with a Wilcoxon rank sum test and discrete variables with a Chi square test or Fisher’s exact test.
RESULTS Twenty subjects were included in the final analysis. The median age was 22.3 years (11.3-39.0) and median FEV1 was 77% (33%-105%). Twelve subjects had CFRD and 8 had NGT. Nine subjects were receiving lumacaftor/ivacaftor. The median PDFF was 3.0% (0.0%-21.0%). Six subjects (30%) had hepatic steatosis defined as PDFF > 5%. Hepatic fat fraction was significantly lower in patients receiving lumacaftor/ivacaftor (median, range) (2.0%, 0.0%-6.4%) than in patients not receiving lumacaftor/ivacaftor (4.1%, 2.7-21.0%), P = 0.002. Though patients with CFRD had lower PDFF (2.2%, 0.0%-14.5%) than patients with NGT (4.9%, 2.4-21.0%) this did not reach statistical significance, P = 0.06. No other clinical characteristic was strongly associated with hepatic steatosis.
CONCLUSION Use of the CFTR modulator lumacaftor/ivacaftor was associated with significantly lower hepatic steatosis. No association between CFRD and hepatic steatosis was found in this cohort.
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Affiliation(s)
- Katherine Kutney
- Department of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
| | - Shannon B Donnola
- Department of Radiology Case Western Reserve University, Cleveland, OH 44106, United States
| | - Chris A Flask
- Department of Radiology Case Western Reserve University, Cleveland, OH 44106, United States
- Department of Biomedical Engineering, Case Western Reserve University, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
| | - Rose Gubitosi-Klug
- Department of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
| | - MaryAnn O’Riordan
- Department of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
| | - Kimberly McBennett
- Department of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
| | - Thomas J Sferra
- Department of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
| | - Beth Kaminski
- Department of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Cleveland, OH 44106, United States
- Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, United States
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Pediatric ultrasonography of the pancreas: normal and abnormal findings. J Ultrasound 2018; 22:261-272. [PMID: 30552664 DOI: 10.1007/s40477-018-0348-8] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2018] [Accepted: 12/04/2018] [Indexed: 12/11/2022] Open
Abstract
The pancreas is easily investigated in children thanks to the relative lack of fat tissue and the large left hepatic lobe with an optimal acoustic window. The use of high frequency, even linear transducers, usually results in detailed images of all pancreatic areas. A wide spectrum of pancreatic pathologic conditions can be identified and monitored at ultrasound although they are relatively uncommon during childhood compared to the adult. In this paper we briefly review the anatomy, technique, and sonographic aspects of normal and pathological pediatric pancreas.
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Cavalcoli F, Zilli A, Fraquelli M, Conte D, Massironi S. Small Bowel Ultrasound beyond Inflammatory Bowel Disease: An Updated Review of the Recent Literature. ULTRASOUND IN MEDICINE & BIOLOGY 2017; 43:1741-1752. [PMID: 28625560 DOI: 10.1016/j.ultrasmedbio.2017.04.028] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/17/2016] [Revised: 04/03/2017] [Accepted: 04/26/2017] [Indexed: 02/08/2023]
Abstract
The use of bowel ultrasonography (US) for the evaluation of gut diseases has increased in recent years and has been proven to provide a widely available, non-invasive and inexpensive method for the initial work-up and follow-up of different intestinal diseases, limited mostly by technical challenges posed by the patient's anatomy. The present review aims to provide an extensive overview of the main pathologic features at US examination of intestinal diseases other than inflammatory bowel disease, both acute (e.g., acute appendicitis, colonic diverticulitis, infectious diseases and ischemic conditions) and chronic (e.g., celiac disease, cystic fibrosis and other enterocolites). The identification of typical US features may help in the diagnostic process and guide the treatment approach. Therefore, the application of knowledge of the US appearance of gastrointestinal diseases is of relevance in enabling greater diagnostic performance and better patient management.
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Affiliation(s)
- Federica Cavalcoli
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Postgraduate School of Gastroenterology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
| | - Alessandra Zilli
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Postgraduate School of Gastroenterology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
| | - Mirella Fraquelli
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Postgraduate School of Gastroenterology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
| | - Dario Conte
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Postgraduate School of Gastroenterology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
| | - Sara Massironi
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
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Stanescu AL, Liszewski MC, Lee EY, Phillips GS. Neonatal Gastrointestinal Emergencies. Radiol Clin North Am 2017; 55:717-739. [DOI: 10.1016/j.rcl.2017.02.010] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
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Question 8: How should distal intestinal obstruction syndrome [DIOS] be managed? Paediatr Respir Rev 2017; 21:68-71. [PMID: 27425011 DOI: 10.1016/j.prrv.2016.04.001] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/13/2016] [Accepted: 04/13/2016] [Indexed: 11/23/2022]
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Xue R, Gu H, Qiu Y, Guo Y, Korteweg C, Huang J, Gu J. Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract. Sci Rep 2016; 6:30926. [PMID: 27491544 PMCID: PMC4974654 DOI: 10.1038/srep30926] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2016] [Accepted: 07/11/2016] [Indexed: 02/05/2023] Open
Abstract
CF is caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) which is an anion selective transmembrane ion channel that mainly regulates chloride transport, expressed in the epithelia of various organs. Recently, we have demonstrated CFTR expression in the brain, the spinal cord and the sympathetic ganglia. This study aims to investigate the expression and distribution of CFTR in the ganglia of the human gastrointestinal tract. Fresh tissue and formalin-fixed paraffin-embedded normal gastrointestinal tract samples were collected from eleven surgical patients and five autopsy cases. Immunohistochemistry, in situ hybridization, laser-assisted microdissection and nested reverse transcriptase polymerase chain reaction were performed. Expression of CFTR protein and mRNA was detected in neurons of the ganglia of all segments of the human gastrointestinal tract examined, including the stomach, duodenum, jejunum, ileum, cecum, appendix, colon and rectum. The extensive expression of CFTR in the enteric ganglia suggests that CFTR may play a role in the physiology of the innervation of the gastro-intestinal tract. The presence of dysfunctional CFTRs in enteric ganglia could, to a certain extent, explain the gastrointestinal symptoms frequently experienced by CF patients.
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Affiliation(s)
- Ruiqi Xue
- Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China
| | - Huan Gu
- Department of Pathology, Key Laboratory of Infectious Diseases and Molecular Pathology, Guangdong Province, Collaborative and Creative Center of Molecular Pathology and Personalized Medicine, Shantou University Medical College, Shantou, China
- Department of Physics, University of Maryland, College Park, MD, USA
| | - Yamei Qiu
- Department of Pathology, Key Laboratory of Infectious Diseases and Molecular Pathology, Guangdong Province, Collaborative and Creative Center of Molecular Pathology and Personalized Medicine, Shantou University Medical College, Shantou, China
| | - Yong Guo
- Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China
| | - Christine Korteweg
- Department of Pathology, Key Laboratory of Infectious Diseases and Molecular Pathology, Guangdong Province, Collaborative and Creative Center of Molecular Pathology and Personalized Medicine, Shantou University Medical College, Shantou, China
| | - Jin Huang
- Department of Pathology, Key Laboratory of Infectious Diseases and Molecular Pathology, Guangdong Province, Collaborative and Creative Center of Molecular Pathology and Personalized Medicine, Shantou University Medical College, Shantou, China
| | - Jiang Gu
- Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China
- Department of Pathology, Key Laboratory of Infectious Diseases and Molecular Pathology, Guangdong Province, Collaborative and Creative Center of Molecular Pathology and Personalized Medicine, Shantou University Medical College, Shantou, China
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Fraquelli M, Baccarin A, Corti F, Conti CB, Russo MC, Della Valle S, Pozzi R, Cressoni M, Conte D, Colombo C. Bowel ultrasound imaging in patients with cystic fibrosis: Relationship with clinical symptoms and CFTR genotype. Dig Liver Dis 2016; 48:271-276. [PMID: 26514737 DOI: 10.1016/j.dld.2015.09.010] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/13/2015] [Revised: 09/08/2015] [Accepted: 09/20/2015] [Indexed: 02/08/2023]
Abstract
BACKGROUND Ultrasound imaging is used to assess bowel abnormalities in gastrointestinal diseases. We aimed to assess the rate of predefined bowel ultrasound signs and their relationship with gastrointestinal symptoms and the cystic fibrosis transmembrane conductance regulator (CFTR) genotype in cystic fibrosis patients in regular follow-up. METHODS Prospective study of 70 consecutive patients with cystic fibrosis and 45 controls who underwent abdominal ultrasound; pertinent findings were related to gastrointestinal symptoms and, in cystic fibrosis patients, to pancreatic status, malabsorption degree, lipase intake, CFTR genotype (classified as severe or mild against functional class of CFTR mutations). RESULTS 96% patients showed at least one abnormal bowel ultrasound sign. Most frequent signs were lymph node enlargement (64%), bowel loop dilatation (55%), thick corpuscular intraluminal content (49%), bowel wall hypervascularization (26%), thickened bowel wall (22%) and intussusception (17%). Patients with recurrent abdominal pain showed more bowel wall hypervascularization than patients without recurrent pain (47% vs. 19%, respectively; p = 0.02) and intussusception (58% vs. 17%, respectively; p < 0.01). Genotype was not associated to specific bowel ultrasound signs. Patients with bowel loop intussusception showed greater lipase intake than those without intussusception (8.118 ± 2.083 vs. 5.994 ± 4.187, respectively; p < 0.01). CONCLUSION Cystic fibrosis patients present a higher rate of bowel ultrasound abnormalities than controls. Bowel ultrasound abnormalities are associated with abdominal symptoms.
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Affiliation(s)
- Mirella Fraquelli
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
| | - Alessandra Baccarin
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - Fabiola Corti
- Regional Referral Centre for Cystic Fibrosis, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
| | - Clara Benedetta Conti
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - Maria Chiara Russo
- Regional Referral Centre for Cystic Fibrosis, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
| | - Serena Della Valle
- S.S.D., Department of Anesthesia and Resuscitation, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
| | - Roberta Pozzi
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - Massimo Cressoni
- Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
| | - Dario Conte
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
| | - Carla Colombo
- Regional Referral Centre for Cystic Fibrosis, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Hepatic and Splenic Acoustic Radiation Force Impulse Shear Wave Velocity Elastography in Children with Liver Disease Associated with Cystic Fibrosis. BIOMED RESEARCH INTERNATIONAL 2015; 2015:517369. [PMID: 26609528 PMCID: PMC4644813 DOI: 10.1155/2015/517369] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 09/09/2015] [Accepted: 10/15/2015] [Indexed: 12/11/2022]
Abstract
BACKGROUND Liver disease associated with cystic fibrosis (CFLD) is the second cause of mortality in these patients. The diagnosis is difficult because none of the available tests are specific enough. Noninvasive elastographic techniques have been proven to be useful to diagnose hepatic fibrosis. Acoustic radiation force impulse (ARFI) imaging is an elastography imaging system. The purpose of the work was to study the utility of liver and spleen ARFI Imaging in the detection of CFLD. Method. 72 patients with cystic fibrosis (CF) were studied and received ARFI imaging in the liver and in the spleen. SWV values were compared with the values of 60 healthy controls. Results. Comparing the SWV values of CFLD with the control healthy group, values in the right lobe were higher in patients with CFLD. We found a SWV RHL cut-off value to detect CFLD of 1.27 m/s with a sensitivity of 56.5% and a specificity of 90.5%. CF patients were found to have higher SWC spleen values than the control group. Conclusions. ARFI shear wave elastography in the right hepatic lobe is a noninvasive technique useful to detect CFLD in our sample of patients. Splenic SWV values are higher in CF patients, without any clinical consequence.
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Parisi GF, Di Dio G, Franzonello C, Gennaro A, Rotolo N, Lionetti E, Leonardi S. Liver disease in cystic fibrosis: an update. HEPATITIS MONTHLY 2013; 13:e11215. [PMID: 24171010 PMCID: PMC3810678 DOI: 10.5812/hepatmon.11215] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 03/14/2013] [Revised: 06/16/2013] [Accepted: 08/05/2013] [Indexed: 12/11/2022]
Abstract
CONTEXT Cystic fibrosis (CF) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the Caucasian population. As the median survival has increased related to early multidisciplinary intervention, other manifestations of CF have emerged especially for the broad spectrum of hepatobiliary involvement. The present study reviews the existing literature on liver disease in cystic fibrosis and describes the key issues for an adequate clinical evaluation and management of patients, with a focus on the pathogenetic, clinical and diagnostic-therapeutic aspects of liver disease in CF. EVIDENCE ACQUISITION A literature search of electronic databases was undertaken for relevant studies published from 1990 about liver disease in cystic fibrosis. The databases searched were: EMBASE, PubMed and Cochrane Library. RESULTS CF is due to mutations in the gene on chromosome 7 that encodes an amino acidic polypeptide named CFTR (cystic fibrosis transmembrane regulator). The hepatic manifestations include particular changes referring to the basic CFTR defect, iatrogenic lesions or consequences of the multisystem disease. Even though hepatobiliary disease is the most common non-pulmonary cause of mortality in CF (the third after pulmonary disease and transplant complications), only about the 33%of CF patients presents clinically significant hepatobiliary disease. CONCLUSIONS Liver disease will have a growing impact on survival and quality of life of cystic fibrosis patients because a longer life expectancy and for this it is important its early recognition and a correct clinical management aimed at delaying the onset of complications. This review could represent an opportunity to encourage researchers to better investigate genotype-phenotype correlation associated with the development of cystic fibrosis liver disease, especially for non-CFTR genetic polymorphisms, and detect predisposed individuals. Therapeutic trials are needed to find strategies of fibrosis prevention and to avoid its progression prior to development its related complications.
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Affiliation(s)
- Giuseppe Fabio Parisi
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
| | - Giovanna Di Dio
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
| | - Chiara Franzonello
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
| | - Alessia Gennaro
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
| | - Novella Rotolo
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
| | - Elena Lionetti
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
| | - Salvatore Leonardi
- Department of Medical and Pediatric Science, Bronchopneumology and Cystic Fibrosis Unit, University of Catania, Catania, Italy
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Friedrich-Rust M, Schlueter N, Smaczny C, Eickmeier O, Rosewich M, Feifel K, Herrmann E, Poynard T, Gleiber W, Lais C, Zielen S, Wagner TOF, Zeuzem S, Bojunga J. Non-invasive measurement of liver and pancreas fibrosis in patients with cystic fibrosis. J Cyst Fibros 2013; 12:431-9. [PMID: 23361108 DOI: 10.1016/j.jcf.2012.12.013] [Citation(s) in RCA: 55] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2012] [Revised: 12/26/2012] [Accepted: 12/29/2012] [Indexed: 02/07/2023]
Abstract
BACKGROUND Patients with cystic fibrosis (CF) have a relevant morbidity and mortality caused by CF-related liver-disease. While transient elastography (TE) is an established elastography method in hepatology centers, Acoustic-Radiation-Force-Impulse (ARFI)-Imaging is a novel ultrasound-based elastography method which is integrated in a conventional ultrasound-system. The aim of the present study was to evaluate the prevalence of liver-fibrosis in patients with CF using TE, ARFI-imaging and fibrosis blood tests. METHODS 106 patients with CF were prospectively included in the present study and received ARFI-imaging of the left and right liver-lobe, ARFI of the pancreas TE of the liver and laboratory evaluation. RESULTS The prevalence of liver-fibrosis according to recently published best practice guidelines for CFLD was 22.6%. Prevalence of significant liver-fibrosis assessed by TE, ARFI-right-liver-lobe, ARFI-left-liver-lobe, Fibrotest, Fibrotest-corrected-by-haptoglobin was 17%, 24%, 40%, 7%, and 16%, respectively. The best agreement was found for TE, ARFI-right-liver-lobe and Fibrotest-corrected-by-haptoglobin. Patients with pancreatic-insufficiency had significantly lower pancreas-ARFI-values as compared to patients without. CONCLUSIONS ARFI-imaging and TE seem to be promising non-invasive methods for detection of liver-fibrosis in patients with CF.
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Affiliation(s)
- Mireen Friedrich-Rust
- Department of Internal Medicine 1, J.W. Goethe-University Hospital, Frankfurt, Germany.
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15
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Colombo C, Ellemunter H, Houwen R, Munck A, Taylor C, Wilschanski M. Guidelines for the diagnosis and management of distal intestinal obstruction syndrome in cystic fibrosis patients. J Cyst Fibros 2011; 10 Suppl 2:S24-8. [PMID: 21658638 DOI: 10.1016/s1569-1993(11)60005-2] [Citation(s) in RCA: 111] [Impact Index Per Article: 7.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
Abstract
Complete or incomplete intestinal obstruction by viscid faecal material in the terminal ileum and proximal colon - distal intestinal obstruction syndrome (DIOS) - is a common complication in cystic fibrosis. Estimates of prevalence range from 5 to 12 episodes per 1000 patients per year in children, with higher rates reported in adults. DIOS is mainly seen in patients with pancreatic insufficiency, positive history of meconium ileus and previous episodes of DIOS. DIOS is being described with increasing frequency following organ transplantation. Diagnosis is based on suggestive symptoms with a right lower quadrant mass confirmed on X-ray. The main differential is chronic constipation. Treatment consists of rehydration combined with stool softening laxatives or gut lavage with balanced electrolyte solutions. Rapid fluid shifts have been described following osmotic agents. Avoiding dehydration and optimizing pancreatic enzyme dosage may reduce the chance of further episodes. Prophylactic laxative therapy is widely used, but is not evidence-based.
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Affiliation(s)
- Carla Colombo
- Cystic Fibrosis Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinica, University of Milan, Milan, Italy.
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16
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Mir TA, Ashraf M, Ahmed K, Chowdhary J, Rehana B, Ahmed J. Clinical profile, diagnostic delay, and genetic make-up of cystic fibrosis in Kashmir, India. Lung India 2011; 28:97-100. [PMID: 21712940 PMCID: PMC3109853 DOI: 10.4103/0970-2113.80318] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
OBJECTIVES This observational study was done to describe the clinical profile, and delays in diagnosing cystic fibrosis (CF) disease in Kashmir, India. MATERIALS AND METHODS A total of 6758 patients between the ages of 0 and 19 years were registered over a period of 1 year. Out of these, 150 patients suspected of having CF, on clinical grounds, were subjected to pilocarpine iontophoresis, and later on genetic evaluation. Apart from these specific tests, these patients were subjected to laboratory tests like blood counts, blood sugar, KFT, LFT, pancreatic function test, serum electrolytes, and chloride, urine, throat swab, blood culture, ABG analysis, chest and paranasal X-rays. In addition, sonographic evaluation of abdominal organs was carried out to know the status of internal organs. A polymerase chain reaction (PCR)-based test was used for the identification of CF mutation. RESULTS CF was diagnosed in three (0.8%) patients. Median age of presentation of CF was 78 months. Family history suggestive of CF was present in one (33.3%) and consanguinity in three (100%) patients. Common clinical manifestations at the time of presentation included recurrent pneumonia in three (100%), failure to thrive in three (100%), recurrent diarrhea in one (33.3%) patients. General physical examination showed pallor in three (100%), malnutrition in three (100%), and clubbing in two (66.7%) patients. Examination of respiratory tract revealed hyperinflation in two (66.7%), rhinitis in two (66.7%), and creptations in two (66.7%) patients. Sonography of abdominal organs revealed pancreatic cysts in one (33.3%), hyperechoeic and increased liver span in two (66.7%), and small gallbladder in one (33.3%). Staphylococcus aureus was cultured from sputum in one (33.3%), pseudomonas aeruginosa in one (33.3%) patients. Delta F508 mutation was present in one (33.3%) patient. CONCLUSION CF may be more common in Kashmir and other parts of Asia, than indicated by our study; diagnosis is often considerably delayed when the disease is identified solely on clinical grounds. It would be advisable to raise the index of suspicion about CF.
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Affiliation(s)
| | - Mohd Ashraf
- Department of Pediatrics, SKIMS Medical College, Srinagar, India
| | - Kaiser Ahmed
- Department of Pediatrics, GB Pant Hospital, GMC, Srinagar, India
| | - Javed Chowdhary
- Department of Pediatrics, GB Pant Hospital, GMC, Srinagar, India
| | - B Rehana
- Department of Pediatrics, GMC, Srinagar, Kashmir 190 001, India
| | - Javid Ahmed
- Department of Pediatrics, SKIMS Medical College, Srinagar, India
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17
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Bravo E, Napolitano M, Valentini SB, Quattrucci S. Neutrophil unsaturated fatty acid release by GM-CSF is impaired in cystic fibrosis. Lipids Health Dis 2010; 9:129. [PMID: 21059219 PMCID: PMC2988788 DOI: 10.1186/1476-511x-9-129] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2010] [Accepted: 11/08/2010] [Indexed: 01/11/2023] Open
Abstract
Dysregulated inflammation in cystic fibrosis (CF) is attributed to an altered production of inflammatory mediators derived from polyunsaturated lipids. In comparison to the arachidonic acid (AA) cascade, little is known about the modulation of docosahexaenoic acid (DHA) membrane release. We compared data on neutrophil DHA- and AA- release from both control (CT) and patients with CF using [3H]AA or [14C]DHA as a markers for, respectively, AA and DHA- release. Granulocyte-macrophage-colony stimulating factor stimulated DHA release from CT, but not CF, neutrophils. Comparison showed that both [14C]DHA and [3H]AA liberated after stimulation was higher in CT than in CF neutrophils. Since bioactive mediators derived from DHA are resolving factors and those derived from AA are both pro- and anti- inflammatory, these results suggest that CF is associated with a reduction of the release of PUFA-precursors of lipooxygenated resolving mediators. This leads to the hypothesis that defects in the resolving factors production could contribute to the inflammatory dysregulated processes in CF. Furthermore, the methodology used may help to improve knowledge on the regulation and resolution of inflammation.
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Affiliation(s)
- Elena Bravo
- Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 199-00161 Roma, Italy.
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18
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Rabelo LAAA, Florêncio IR, Pirauá IM, Albuquerque SCD, Ribeiro Neto JV, Silva EJDCE. Crianças necessitam de jejum antes de ultrassonografia abdominal? Radiol Bras 2009. [DOI: 10.1590/s0100-39842009000600006] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
OBJETIVO: Comparar a qualidade de imagens ultrassonográficas do abdome de crianças, obtidas com e sem a instituição de jejum prévio. MATERIAIS E MÉTODOS: Trata-se de estudo prospectivo, incluindo crianças com até 12 anos de idade. Os pacientes foram examinados sequencialmente por dois utrassonografistas e as imagens foram classificadas em escores: 1 (não visualizado ou parcialmente visualizado, inadequada para diagnóstico); 2 (suficientes para diagnóstico); 3 (excelentes). As imagens foram ainda classificadas como "diagnósticas" ou "não diagnósticas". RESULTADOS: Foram examinados 77 pacientes, sendo 47 meninos e 30 meninas, com idades entre 0 e 12 anos (mediana de 1 ano). Jejum se mostrou vantajoso de forma estatisticamente significativa apenas na avaliação da vesícula biliar, por apenas um dos avaliadores (p = 0,032). Depois de agrupadas em "diagnóstica" ou "não diagnóstica", nenhuma diferença foi observada entre os grupos. CONCLUSÃO: A instituição de jejum não afetou de forma significativa a qualidade das imagens de ultrassonografias abdominais obtidas em crianças.
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Caruso S, Mamone G, Marrone G, Milazzo M, Carollo V, Miraglia R, Maruzzelli L, Minervini MI, Spada M, Riva S, Luca A, Gridelli B. Diffuse liver diseases in neonatal and pediatric liver transplant candidates: a pictorial essay. Clin Transplant 2009; 24:450-8. [PMID: 19919607 DOI: 10.1111/j.1399-0012.2009.01138.x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022]
Abstract
A wide spectrum of common and uncommon diffuse liver diseases affecting neonatal and pediatric liver transplant candidates is presented and analyzed using 16 and 64 multi-detector row helical CT (MDCT) and 1.5 T MRI fast imaging. Correlation of imaging findings and explanted liver or histology is illustrated in representative cases. Associated uncommon congenital anomalies are shown. In conclusion, in pediatric liver transplant candidates, 16-MDCT and 1.5 T fast MRI are useful for diagnosis and staging of liver disease, as well as for the evaluation of associated congenital anomalies.
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Affiliation(s)
- Settimo Caruso
- Department of Radiology, Istituto Mediterraneo Trapianti e Terapie ad Alta Specializzazione (IsMeTT), Palermo, Italy.
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20
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Christiansen SR, Broniscer A, Panetta JC, Stewart CF. Pharmacokinetics of erlotinib for the treatment of high-grade glioma in a pediatric patient with cystic fibrosis: case report and review of the literature. Pharmacotherapy 2009; 29:858-66. [PMID: 19558260 DOI: 10.1592/phco.29.7.858] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/06/2023]
Abstract
A 12-year-old girl with cystic fibrosis was diagnosed with a high-grade glioma after radiographic and biopsy results confirmed the primary intracranial lesion. She was treated with single-agent erlotinib during and after daily localized radiation therapy. Pharmacokinetic studies were conducted to assess the effect of pancreatic enzyme deficiency and intestinal malabsorption secondary to cystic fibrosis on the bioavailability of orally administered erlotinib, a lipophilic drug. Pharmacokinetic analysis of plasma samples from days 1 and 8 demonstrated that absorption of oral erlotinib was not affected by the patient's cystic fibrosis when the drug was given concomitantly with pancreatic enzyme replacement. When pediatric patients with cystic fibrosis are receiving erlotinib or other lipophilic oral drugs, continued supplementation of pancreatic enzymes is recommended, with therapeutic drug monitoring of plasma drug concentrations when feasible, and close observation for therapeutic responses and adverse effects.
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Affiliation(s)
- Shannon R Christiansen
- Department of Pharmaceutical Services, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA
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