Progressive Familial Intrahepatic Cholestasis
Authors:
P. Dědek
Authors‘ workplace:
Dětská klinika Fakultní nemocnice a Lékařská fakulta, Hradec Králové
přednosta prof. MUDr. M. Bayer, DrSc.
Published in:
Čes-slov Pediat 2010; 65 (4): 197-205.
Category:
Postgraduate Education
Overview
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 then appears much later - during the whole childhood and rarely even in adults. Phenotypic manifestations of PFIC are diverse, but the main symptoms are pruritus and jaundice.
Diagnostics is based on precise evaluation of clinical course of the disease, biochemical liver tests (normal levels of gammaglutamyltransferase in PFIC1 and PFIC2 are unique), and histological, immunohistochemical and electron microscopic examination of the liver tissue. Biliary tract imaging together with biochemical bile analysis is sometimes indicated in PFIC3. Molecular genetic examination of all three types of PFIC is also available. Conservative treatment, which consists of standard cholestasis management including ursodeoxycholic acid application, usually fails. The natural history of the disease may be influenced by biliary diversion, but most of the patients progresses to liver failure and requires liver transplantation.
Key words:
progressive familial intrahepatic cholestasis
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2010 Issue 4
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