Article
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.
The American journal of case reports - 20 Jul 2021
Jankowska Irena, Pawłowska Joanna, Szymczak Marek, Ismail Hor, Broniszczak Dorota, Cielecka-Kuszyk Joanna, Socha Piotr, Jarzębicka Dorota, Czubkowski Piotr
Abstract excerpt
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...
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