Progressive familial intrahepatic cholestasis type 2 – paediatric patients followed at the Paediatric Clinic of the 2nd Medical Faculty, University Hospital Motol, Prague

Authors: R. Kotalová 1;  E. Sticová 2;  M. Jirsa 3
Authors‘ workplace: Pediatrická klinika 2. LF UK a FN v Motole, Praha 1;  Pracoviště klinické a transplantační patologie, Transplantcentrum, IKEM, Praha 2;  Laboratoř experimentální hepatologie, Centrum experimentální medicíny, IKEM, Praha 3
Published in: Gastroent Hepatol 2015; 69(6): 547-553
doi: 10.14735/amgh2015547


Progressive familial intrahepatic cholestasis type 2 is an autosomal recessive cholestatic liver disease caused by a deficiency in canalicular ATP-dependent bile salt export pump BSEP. We present case reports and collected data of six Czech patients suffering from this disease, diagnosed between 2005 and 2015, in whom seven new mutations in ABCB11 were revealed by molecular analysis.

Key words:
progressive familial intrahepatic cholestasis type 2 - BSEP – ursodeoxycholic acid – pruritus – liver transplantation

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

20. 11. 2015

27. 11. 2015


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Paediatric gastroenterology Gastroenterology and hepatology Surgery

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