Progressive familial intrahepatic cholestasis and inborn errors of bile acid synthesis - 01/06/12

Doi : 10.1016/j.clinre.2012.03.020

Irena Jankowska, Piotr Socha ^⁎
Department of Gastroenterology, Hepatology and Eating Disorders, The Children’s Memorial Health Institute, Al. Dzieci Polskich, 20, 04730 Warsaw, Poland

Corresponding author. Tel.: +48 22 815 73 84; fax: +48 22 815 73 82.

Bienvenido a EM-consulte, la referencia de los profesionales de la salud.
El acceso al texto completo de este artículo requiere una suscripción.

páginas	4
Iconografías	1
Vídeos	0
Otros	0

Summary

Progressive familial intrahepatic cholestasis (PFIC), types 1, 2 and 3, are due to defects in genes involved in bile secretion (FIC1, BSEP, MDR3). PFIC and inborn errors of bile acid synthesis (IEBAS) often present in infancy with cholestasis. The distinctive feature of PFIC 1 and 2 and IEBAS is a normal level of GGT, while IEBAS are suspected in patients with low plasma bile acids concentration. Molecular testing, urinary bile acid analysis (IEBAS), liver biopsy and immuno-staining are used for the diagnosis. Some patients with PFIC can be successfully treated with ursodeoxycholic acid or partial external biliary diversion. IEBAS is treated with cholic acid. Liver transplantation is required for cirrhosis with liver failure. Hepatocarcinoma has been reported in PFIC2.

El texto completo de este artículo está disponible en PDF.