A case of DNA diagnostic and genetic counseling of progressive familial intrahepatic cholestasis
Abstract Progressive familial intrahepatic cholestasis – is a group of inherited autosomal-recessive disorders leading to disruption of bile acid flow. According to different resources the frequency of PFIC is 1:50 000–1:100000 [1]. Three different genetic types of PFIC are known: mutations in ATP8B1, ABCB11, ABCB4 genes cause PFIC I, II and III respectively. Around 50% of genetically confirmed PFIC cases are caused by ABCB11 mutations, thus being PFIC 2 type. PFIC 2 type is characterized by more severe clinical features, liver cirrhosis development and high risk of hepatocellular carcinoma. Due to severity of the disease and high risk of recurrence of the disease in the family it is necessary to provide timely DNA-diagnostic and family genetic counseling. In our study we present a case of clinical and genetic diagnostics, surgical treatment and familial counselling in PFIC, type 2 case.
Keywords:familial intrahepatic cholestasis, ABCB11, liver transplantation, family genetic counseling
Clin. Experiment. Surg. Petrovsky J. – 2015. – N 1. – Р. 36–41.
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