2019/10/02 by Patryk Lipiński, Lipiński, Patryk, Irena Jankowska +1
Medicine · #Drug Transport and Resistance Mechanisms #Liver Disease Diagnosis and Treatment #Liver Diseases and Immunity #Pediatric Hepatobiliary Diseases and Treatments #Renal Diseases and Glomerulopathies
paper · doi:10.34763/devperiodmed.20182204.385389
openalex publication_date 2019/10/02 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/26
Progressive familial intrahepatic cholestasis is caused by mutations in the ABCB4 gene and belongs to the family of familial intrahepatic cholestais disorders inherited in an autosomal recessive pattern. To date, about 200 patients with various hepatobiliary disorders associated with ABCB4 gene mutations have been described in the literature. The aim of this manuscript was to describe the pathogenesis, clinical presentation, diagnostic process and treatment of progressive familial intrahepatic cholestais type 3, based on the literature review.