Cystic fibrosis liver disease

Andrew P. Feranchak, Andrew P. Feranchak

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Citations (Scopus)

Abstract

Cystic fibrosis (CF) is a genetic disorder characterized by epithelial electrolyte transport abnormalities, elevated sweat Cl− concentrations, pancreatic insufficiency, and chronic lung disease in most patients. It is the most common potentially fatal genetic disorder in the Caucasian population, affecting 1 in 2400–3500 live births [1, 2]. It is an autosomal recessive disorder caused by a mutation in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane channel protein. The clinical significance of hepatobiliary disease in CF has not been well characterized primarily because of two factors: (1) pulmonary involvement leads to early mortality in a majority of patients, and (2) the clinical identification of CF-associated liver disease has been difficult because, although it is progressive, liver involvement is often asymptomatic until the appearance of end-stage complications. Recently, with improved pulmonary treatments, median life expectancy now exceeds 30 years [3] and CF-associated hepatobiliary disease is recognized and characterized more comprehensively. Liver disease is now the second major cause of death in CF [4]. In recent years, advances in our understanding of the function of CFTR in bile duct epithelia have provided a stronger scientific basis for the pathogenesis of the disease, leading to insights concerning potentially novel therapeutic approaches. The earliest reports of CF, probably date to the Middle Ages with reports of malnourished and “sickly” children that tasted “salty” when kissed [5].

Original languageEnglish (US)
Title of host publicationLiver Disease in Children, Third Edition
PublisherCambridge University Press
Pages572-594
Number of pages23
ISBN (Print)9780511547409, 9780521856577
DOIs
StatePublished - Jan 1 2007

Fingerprint

Cystic Fibrosis
Liver Diseases
Cystic Fibrosis Transmembrane Conductance Regulator
Inborn Genetic Diseases
Exocrine Pancreatic Insufficiency
Lung
Sweat
Live Birth
Life Expectancy
Bile Ducts
Ion Channels
Electrolytes
Lung Diseases
Cause of Death
Membrane Proteins
Chronic Disease
Epithelium
Mutation
Mortality
Liver

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Feranchak, A. P., & Feranchak, A. P. (2007). Cystic fibrosis liver disease. In Liver Disease in Children, Third Edition (pp. 572-594). Cambridge University Press. https://doi.org/10.1017/CBO9780511547409.026

Cystic fibrosis liver disease. / Feranchak, Andrew P.; Feranchak, Andrew P.

Liver Disease in Children, Third Edition. Cambridge University Press, 2007. p. 572-594.

Research output: Chapter in Book/Report/Conference proceedingChapter

Feranchak, AP & Feranchak, AP 2007, Cystic fibrosis liver disease. in Liver Disease in Children, Third Edition. Cambridge University Press, pp. 572-594. https://doi.org/10.1017/CBO9780511547409.026
Feranchak AP, Feranchak AP. Cystic fibrosis liver disease. In Liver Disease in Children, Third Edition. Cambridge University Press. 2007. p. 572-594 https://doi.org/10.1017/CBO9780511547409.026
Feranchak, Andrew P. ; Feranchak, Andrew P. / Cystic fibrosis liver disease. Liver Disease in Children, Third Edition. Cambridge University Press, 2007. pp. 572-594
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