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A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant

Unusual clinical course, Unusual or unexpected effect of treatment, Rare disease, Congenital defects / diseases

Irena Jankowska, Joanna Pawłowska, Marek Szymczak, Hor Ismail, Dorota Broniszczak, Joanna Cielecka-Kuszyk, Piotr Socha, Dorota Jarzębicka, Piotr Czubkowski

Poland Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, Poland

Am J Case Rep 2021; 22:e932374

DOI: 10.12659/AJCR.932374

Available online: 2021-06-11

Published: 2021-07-20


BACKGROUND: Current treatment options for progressive intrahepatic familial cholestasis type 1 (PFIC-1) comprise ursodeoxycholic acid (UDCA), partial external biliary diversion (PEBD), and liver transplantation (LTx). The role and timing of LTx in PFIC-1 remains debated. We present 2 case reports of male siblings with PFIC-1 who benefited from different treatments.
CASE REPORT: Both siblings harbored a homozygous truncating mutation in ATP8B1 characteristic for PFIC-1 and both underwent PEBD after unsuccessful UDCA treatment at the age of 7 and 5 months, respectively. The older brother, after initial improvement of symptoms, developed severe pruritus, cholestasis, and diarrhea 9 months after PEBD and underwent LTx at the age of 16 months. Chronic diarrhea and abnormal transaminases activity appeared soon after transplantation. A liver biopsy was performed 3 months after LTx and showed severe macrovesicular steatosis (95%). Sixteen months after LTx, total biliary diversion was performed, with rapid relief from diarrhea and significant regression of graft steatosis by <30%.
In his brother we observed persistent severe pruritus and cholestasis after PEBD, but we decided to postpone LTx due to lack of a living related donor and risk of graft steatosis. Eight months after PEBD, bilirubin and bile acids significantly decreased and pruritus disappeared completely. Currently, in 5-year follow-up, liver function is stable and he has no pruritus.
CONCLUSIONS: The good effect of PEBD may be delayed in PFIC-1, even in severe mutation; thus, the decision to perform LTx should be made cautiously. Total biliary diversion is an efficient procedure in case of persistent symptoms after LTx and can reverse graft steatosis in children with PFIC-1.

Keywords: Biliary Tract Surgical Procedures, Cholestasis, Transplants