Byler Syndrome – A Case Report
V. Bartoš 1; Ľ. Lauko 1; R. Szépeová 2; N. Mišovicová 3; M. Dekanová 4
Ústav patologickej anatómie JLF UK a MFN, Martin
1; Klinika detí a dorastu JLF UK a MFN, Martin
2; Oddelenie genetiky MFN, Martin
3; Praktický lekár pre deti a dorast
Čes-slov Pediat 2006; 61 (1): 32-35.
Bylers syndrome is a part of spectrum of syndromes called progressive familial intrahepatic cholestasis. The cause of Bylers syndrome is a gene mutation with following changes in gene product, that is needed for bile production and canalicular export. This fatal disorder is characterised by autosomal recessive inheritance, begins in infancy, progress rapidly and usually cause cirrhosis within the first decade of life. The authors of the article present a case report of two siblings with Bylers syndrome documentated by bioptical and necroptical findings in the liver.
progressive familial intrahepatic cholestasis, Bylers disease, Bylers syndrome
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