Document Detail

Clinical and genetic risk factors for cystic fibrosis-related liver disease.
MedLine Citation:
PMID:  9917439     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: The aim of this study was to define the role of possible risk factors for the development of cystic fibrosis (CF)-related liver disease and to analyze the association between liver disease and the different genotypes present in the Israeli CF patient population. PATIENTS AND METHODS: All patients followed at the seven CF centers in Israel were included in this study. Liver disease was determined by persistently elevated serum liver enzymes and/or bilirubin, and/or significant ultrasonographic changes suggestive of chronic liver disease. The following clinical parameters were evaluated: ethnic origin, age at assessment of liver function, sex, history of meconium ileus, pancreatic function, history of distal intestinal obstruction syndrome, pulmonary function, and cystic fibrosis transmembrane conductance regulator mutation analysis. RESULTS: Of the 288 patients screened, 80 (28%) had liver disease. Of the 256 patients with pancreatic insufficiency, 80 (31%) had liver disease compared with none of the 32 patients with pancreatic sufficiency. Genotype-phenotype correlation was performed on 207 patients carrying identified mutations that were previously classified according to phenotype severity. Liver disease was found in 56 (32%) of 173 patients carrying mutations associated with a severe phenotype and in 6 (38%) of 16 patients carrying at least one mutation associated with a variable genotype (G85E and/or 5T allele). None of the 18 patients carrying the 3849+10kb C->T mutation had liver disease. Prevalence of liver disease increased with age. No correlation was found between liver disease and severity of lung disease, nutritional status, history of meconium ileus, or distal intestinal obstruction syndrome. CONCLUSION: CF patients who have pancreatic insufficiency and carry mutations associated with a severe or a variable genotype are at increased risk to develop liver disease.
M Wilschanski; J Rivlin; S Cohen; A Augarten; H Blau; M Aviram; L Bentur; C Springer; Y Vila; D Branski; B Kerem; E Kerem
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatrics     Volume:  103     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  1999 Jan 
Date Detail:
Created Date:  1999-02-05     Completed Date:  1999-02-05     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  52-7     Citation Subset:  AIM; IM    
Department of Pediatrics, Cystic Fibrosis Center, Shaare Zedek Medical Center, Hebrew University, Jerusalem.
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MeSH Terms
Child, Preschool
Cystic Fibrosis / classification,  complications*,  ethnology,  genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Exocrine Pancreatic Insufficiency / complications
Liver Diseases / etiology*
Logistic Models
Middle Aged
Risk Factors
Severity of Illness Index
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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