Progressive familial intrahepatic cholestasis: сlinicalе features and genetic heterogeneity

   Introduction. Progressive familial intrahepatic cholestasis (PFIC) is a genetically heterogeneous liver disease leading to cirrhosis and liver failure. Early diagnosis and a personalized treatment approach are essential.

   Methods. A total of 25 probands with PFIC were examined. A clinical and genetic analysis was performed, including targeted gene panel sequencing and whole-exome sequencing.

   Results. The most common form of the disease was PFIC type 2. The median age of disease onset was 1.5 months. The most frequent symptoms included cholestasis, hepatomegaly, pruritus, and hemorrhagic syndrome. A total of 19 pathogenic and 6 likely pathogenic variants were identified, including novel mutations in the ABCB11, USP53, MYO5B, ABCB4, and ATP8B1 genes.

   Conclusions. Genetic variant verification enables personalized therapy selection, including bile acid transporter inhibitors, and facilitates decision-making regarding liver transplantation timing.

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