Authors: R. Kotalová 1; D. Cebecauerová 2,3; A. S. Knisely 3; M. Hřebíček 4; M. Jirsa 2 Authors‘ workplace: Laboratory of Experimental Hepatology CEM IKEM, Prague Head MUDr. Mgr. M. Jirsa, CSc. 2; Department of Paediatrics, Charles University, nd Faculty of Medicine, Prague Chair prof. MUDr. J. Vavřinec, Dr. Sc. 2; Institute of Liver Studies, King’s College Hospital, London, UK 3; Institute of Inherited Metabolic Diseases, Charles University, 1st Faculty of Medicine, Prague Chair prof. MUDr. M. Elleder, Dr. Sc. 4 Published in: Čes-slov Pediat 2006; 61 (4): 200-206. Category: Case Report
Progressive familial intrahepatic cholestasis (PFIC) is the common name for the group of inherited autosomal recessive cholestatic liver diseases of infancy and childhood caused by defects in genes encoding canalicular proteins involved in handling of phospholipids and bile salts. The first case in the Czech Republic of PFIC confirmed at the molecular level and resulting from defects in ABCB11, encoding bile salt export pump (PFIC type 2), is reported in this paper. The case is presented in the context of the differential diagnosis of neonatal cholestasis with low serum concentrations of gamma-glutamyl transpeptidase activity.
Key words: progressive familial intrahepatic cholestasis, bile salt export pump, ursodeoxycholic acid
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