Cystic fibrosis-associated liver disease.
Liver disease is increasingly common in cystic fibrosis (CF). As new therapeutic options emerge, life expectancy increases and common hepatobiliary manifestations impact on quality of life and survival of CF patients. Hepatobiliary abnormalities in CF vary in nature and range from defects attributable to the underlying CFTR gene defect to those related to systemic disease and malnutrition. Today complications of liver disease represent the third most frequent cause of disease-related death in patients with CF. Here we review molecular and clinical genetics of CF, including genetic modifiers of CF-associated liver disease, and provide practical recommendations for genetic testing, diagnosis and treatment of hepatobiliary manifestations in CF.
Department of Medicine II, Saarland University Hospital, Saarland University, Kirrberger Str. 1, 66421 Homburg, Germany.
Ulrike
U
Herrmann
Gerd
G
Dockter
Frank
F
Lammert
D000818:Animals; D002756:Cholagogues and Choleretics / Q000627:therapeutic use; D003550:Cystic Fibrosis / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000401:mortality / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications; D008107:Liver Diseases / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000401:mortality / Q000503:physiopathology; D016031:Liver Transplantation; D019168:Portasystemic Shunt, Transjugular Intrahepatic; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
C505032:CFTR protein, human; D002756:Cholagogues and Choleretics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014580:Ursodeoxycholic Acid