https://www.ncbi.nlm.nih.gov/pubmed/31555573 PFIC

Pediatr Gastroenterol Hepatol Nutr. 2019 Sep;22(5):479-486. doi: 10.5223/pghn.2019.22.5.479. Epub 2019 Sep 11.
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES1, Kim YB1, Lee S1, Oh SH1, Lee BH1, Kim KM1, Yoo HW1.

Abstract
Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.