Publication at Faculty of Medicine in Hradec Králové |
2010
Abstract
The term progressive familial intrahepatic cholestasis (PFIC) represents complex designation for a heterogeneous group of diseases developing due to mutations in genes coding canalicular proteins associated with the bile production. According to specific mutation we can distinguish 3 types of PFIC (PFIC1-3).
PFIC1 and PFIC2 usually appear during the first months of the life; PFIC3 appears much later - during the whole childhood and rarely even in adults.