Exploring foci of:
Frontiers in Gastroenterology • Vol 4
Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant
June 2025 • Huimin Zhang, Qiang Wang, Xu Chuanyan, Jing Chen
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare autosomal recessive cholestatic liver diseases that typically manifest in infancy or childhood. It is characterized by intrahepatic cholestasis, jaundice, pruritus, and malabsorption, with potential progression to cirrhosis, liver failure, and hepatocellular carcinoma. Here, we report a 36-year-old Chinese male patient with delayed-onset PFIC who presented with recurrent jaundice and pruritus. Laboratory investigations excluded viral, autoimmu…
Cholestasis
Medicine
Pediatrics
Internal Medicine
Liver Transplantation
Hematopoietic Stem Cell Transplantation