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ČESKÁ LÉKAŘSKÁ SPOLEČNOST J. Ev. PURKYNĚ |
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| Anglicky / English version | Čes.-slov. Pediat., 2006, roč. 61, č. 4, s. 200–206. |
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Progressive Familial Intrahepatic
Cholestasis – Manifestations
and Diagnosis in Infancy Kotalová R.1, Cebecauerová D.2,3, Knisely A. S.3, Hřebíček M.4, Jirsa M.2 Department of Paediatrics, Charles University, 2nd Faculty of Medicine, Prague1 Chair prof. MUDr. J. Vavřinec, Dr.Sc. Laboratory of Experimental Hepatology CEM IKEM, Prague2 Head MUDr. Mgr. M. Jirsa, CSc. Institute of Liver Studies, King’s College Hospital, London, UK3 Institute of Inherited Metabolic Diseases, Charles University, 1st Faculty of Medicine, Prague4 Chair prof. MUDr. M. Elleder, Dr.Sc. |
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Souhrn: 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.
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