Genetic and phenotypic features familial intrahepatic cholestasis: case report

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Abstract
Familial intrahepatic cholestasis is a heterogeneous group of genetic disorders affecting the secretion and transport of bile acids. Progressive familial intrahepatic cholestasis (PFIC) may debut at different periods of childhood and in adults. Currently, 13 types are known, associated with changes in various genes and extreme phenotypic variability. PFIC2 type is associated with changes in the ABCB11 gene, causing deficiency or dysfunction of the ATP-binding transport protein that excretes bile acids from the hepatocyte into the bile canaliculi against the concentration gradient. Accumulation of bile acids in hepatocytes leads to the development of cholestasis, ranging from transient to fatal progressive familial intrahepatic cholestasis, accompanied by jaundice, growth retardation, liver cirrhosis, liver failure. Timely diagnosis is extremely important for the initiation of therapy to prevent cholestatic liver damage. The presented clinical case demonstrates the possibility of nosological diagnosis of a rare hereditary pathology and the effectiveness of the therapy at this stage. The conducted genetic study allowed us to diagnose familial intrahepatic cholestasis. The clinical phenotype in this patient does not fully correspond to benign recurrent intrahepatic cholestasis type 2 (OMIM # 605479) and PFIC2 (OMIM # 601847), an intermediate phenotype is likely to occur. Dynamic observation and control of clinical, laboratory and imaging characteristics are necessary in order to timely detect disease progression.

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