Liver disease in cystic fibrosis.
OBJECTIVE
This review highlights recent developments in liver disease associated with cystic fibrosis.


RESULTS
The broad spectrum of hepatobiliary problems in cystic fibrosis includes specific alterations ascribable to the underlying defect as well as lesions of iatrogenic origin or that reflect the effects of a disease process occurring outside the liver. Focal biliary cirrhosis, resulting from biliary obstruction and progressive periportal fibrosis, is the most clinically relevant problem, because extension of the initially focal fibrogenic process may lead to multilobular biliary cirrhosis, portal hypertension and eventually liver failure. Cystic fibrosis associated liver disease is presently classified among genetic cholangiopathies and results from lack or dysfunction of the cystic fibrosis transmembrane regulator at the apical membrane of bile duct cells. Major advances have been achieved regarding characterization of natural history, risk factors, diagnostic modalities and treatment options.


CONCLUSIONS
Liver disease is a relatively frequent and early complication of cystic fibrosis. The pathogenesis is apparently multifactorial, with contributions from environmental and genetic determinants. Its impact on quality of life and survival will increase in future years, and its early detection and treatment will become increasingly important issues. Ursodeoxycholic acid is the only treatment currently available, but novel therapeutic options are being evaluated.
Colombo
Carla
C
Department of Pediatrics, CF Center, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, University of Milan, Milan, Italy. carla.colombo@unimi.it
D003550:Cystic Fibrosis / Q000150:complications*; D004281:Docosahexaenoic Acids / Q000627:therapeutic use; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D008107:Liver Diseases / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D016031:Liver Transplantation / Q000379:methods; D019168:Portasystemic Shunt, Transjugular Intrahepatic / Q000379:methods; D015995:Prevalence; D011379:Prognosis
D004281:Docosahexaenoic Acids