Hepatobiliary complications of cystic fibrosis

Andrew P. Feranchak

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Cystic fibrosis (CF) is the most common potentially lethal genetic disease in the Caucasian population. The disease results from mutations in the gene for the cystic fibrosis stransmembrane conductance regulator (CFTR), a cAMP-activated Cl- channel in the apical membrane of most secretory epithelia. In the liver, CFTR is located in biliary epithelial cells or cholangiocytes and gallbladder epithelia, where it appears to play a role in normal bile formation. However, how a defective CFTR protein leads to associated liver and biliary disease in a subset of patients with CF is unknown. Improvements in life expectancy have led to an increasing recognition of hepatobiliary complications from CF. Whereas the biliary tract disease is usually clinically evident, the liver involvement may progress silently, only manifesting as end-stage liver disease and portal hypertension. Unlike the pancreatic involvement in CF, a genotype-phenotype correlation is not apparent in the expression of liver disease, suggesting the presence of as yet unidentifiable "genetic modifiers" influencing disease expression. This review focuses on the pathogenesis, clinical manifestations, screening, diagnosis, and treatment of CF hepatobiliary disease.

Original languageEnglish (US)
Pages (from-to)231-239
Number of pages9
JournalCurrent Gastroenterology Reports
Volume6
Issue number3
StatePublished - Jun 2004

Fingerprint

Cystic Fibrosis
Liver Diseases
Epithelium
Biliary Tract Diseases
Cystic Fibrosis Transmembrane Conductance Regulator
Inborn Genetic Diseases
End Stage Liver Disease
Liver
Genetic Association Studies
Portal Hypertension
Life Expectancy
Gallbladder
Bile
Epithelial Cells
Mutation
Membranes
Population
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hepatobiliary complications of cystic fibrosis. / Feranchak, Andrew P.

In: Current Gastroenterology Reports, Vol. 6, No. 3, 06.2004, p. 231-239.

Research output: Contribution to journalArticle

Feranchak, AP 2004, 'Hepatobiliary complications of cystic fibrosis', Current Gastroenterology Reports, vol. 6, no. 3, pp. 231-239.
Feranchak, Andrew P. / Hepatobiliary complications of cystic fibrosis. In: Current Gastroenterology Reports. 2004 ; Vol. 6, No. 3. pp. 231-239.
@article{7f30b8b8e4a4445d9f8bf3b3c562f708,
title = "Hepatobiliary complications of cystic fibrosis",
abstract = "Cystic fibrosis (CF) is the most common potentially lethal genetic disease in the Caucasian population. The disease results from mutations in the gene for the cystic fibrosis stransmembrane conductance regulator (CFTR), a cAMP-activated Cl- channel in the apical membrane of most secretory epithelia. In the liver, CFTR is located in biliary epithelial cells or cholangiocytes and gallbladder epithelia, where it appears to play a role in normal bile formation. However, how a defective CFTR protein leads to associated liver and biliary disease in a subset of patients with CF is unknown. Improvements in life expectancy have led to an increasing recognition of hepatobiliary complications from CF. Whereas the biliary tract disease is usually clinically evident, the liver involvement may progress silently, only manifesting as end-stage liver disease and portal hypertension. Unlike the pancreatic involvement in CF, a genotype-phenotype correlation is not apparent in the expression of liver disease, suggesting the presence of as yet unidentifiable {"}genetic modifiers{"} influencing disease expression. This review focuses on the pathogenesis, clinical manifestations, screening, diagnosis, and treatment of CF hepatobiliary disease.",
author = "Feranchak, {Andrew P.}",
year = "2004",
month = "6",
language = "English (US)",
volume = "6",
pages = "231--239",
journal = "Current Gastroenterology Reports",
issn = "1522-8037",
publisher = "Current Medicine Group",
number = "3",

}

TY - JOUR

T1 - Hepatobiliary complications of cystic fibrosis

AU - Feranchak, Andrew P.

PY - 2004/6

Y1 - 2004/6

N2 - Cystic fibrosis (CF) is the most common potentially lethal genetic disease in the Caucasian population. The disease results from mutations in the gene for the cystic fibrosis stransmembrane conductance regulator (CFTR), a cAMP-activated Cl- channel in the apical membrane of most secretory epithelia. In the liver, CFTR is located in biliary epithelial cells or cholangiocytes and gallbladder epithelia, where it appears to play a role in normal bile formation. However, how a defective CFTR protein leads to associated liver and biliary disease in a subset of patients with CF is unknown. Improvements in life expectancy have led to an increasing recognition of hepatobiliary complications from CF. Whereas the biliary tract disease is usually clinically evident, the liver involvement may progress silently, only manifesting as end-stage liver disease and portal hypertension. Unlike the pancreatic involvement in CF, a genotype-phenotype correlation is not apparent in the expression of liver disease, suggesting the presence of as yet unidentifiable "genetic modifiers" influencing disease expression. This review focuses on the pathogenesis, clinical manifestations, screening, diagnosis, and treatment of CF hepatobiliary disease.

AB - Cystic fibrosis (CF) is the most common potentially lethal genetic disease in the Caucasian population. The disease results from mutations in the gene for the cystic fibrosis stransmembrane conductance regulator (CFTR), a cAMP-activated Cl- channel in the apical membrane of most secretory epithelia. In the liver, CFTR is located in biliary epithelial cells or cholangiocytes and gallbladder epithelia, where it appears to play a role in normal bile formation. However, how a defective CFTR protein leads to associated liver and biliary disease in a subset of patients with CF is unknown. Improvements in life expectancy have led to an increasing recognition of hepatobiliary complications from CF. Whereas the biliary tract disease is usually clinically evident, the liver involvement may progress silently, only manifesting as end-stage liver disease and portal hypertension. Unlike the pancreatic involvement in CF, a genotype-phenotype correlation is not apparent in the expression of liver disease, suggesting the presence of as yet unidentifiable "genetic modifiers" influencing disease expression. This review focuses on the pathogenesis, clinical manifestations, screening, diagnosis, and treatment of CF hepatobiliary disease.

UR - http://www.scopus.com/inward/record.url?scp=4544283194&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4544283194&partnerID=8YFLogxK

M3 - Article

C2 - 15128491

AN - SCOPUS:4544283194

VL - 6

SP - 231

EP - 239

JO - Current Gastroenterology Reports

JF - Current Gastroenterology Reports

SN - 1522-8037

IS - 3

ER -