Özet:

Aim: Progressive familial intrahepatic cholestasis (PFIC) is a group of rare heterogeneous autosomal recessive disorders characterized by metabolic defects in biliary proteins involved in the formation and transfer of bile acids in the liver. The clinical presentation usually occurs first in childhood with progressive cholestasis, characterized by causing rapidly progressive liver disease. and causing death due to liver failure, there are 3 subtypes. Recent molecular and genetic studies have allowed the identification of genes responsible for three types of PFIC. Molecular genetic testing is essential and conclusive for diagnosis. The aim of the study was to elucidate the role and characteristics of ATP8B1 gene mutations in in 25 patients with progressive intrahepatic cholestasis type 1. Materials and Methods: The most common mutations seen in the three exons were investigated by DNA sequencing within 27 coding exons. Results: No mutations identified. Conclusion: Mutation screening of just three exons of the gene revealed difficulty in diagnosis and characterizing the genetic molecular basis of patient with PFIC subtypes. This study was important to understand the genetic background of these cases and further genetic studies needed to provide an another perspective.

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