Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

Introduction: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a chronic autosomal recessive disorder characterized by a wide spectrum of clinical severity generally related to the degree of pathogenicity of the causal sequence variation in ABCB4 gene.

Patients And Methods: The present study reports the molecular investigation by Next Generation Sequencing (NGS) of five related patients with PFIC3 disease followed by bioinformatic analysis. A biochemical follow-up is also performed to assess the response of the ursodeoxycholic acid treatment.