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Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.

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 ?-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.

SUBMITTER: Rhee ES

PROVIDER: S-EPMC6751104 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Novel <i>ATP8B1</i> Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.

Rhee Eun Sang ES Kim Yu Bin YB Lee Sunghee S Oh Seak Hee SH Lee Beom Hee BH Kim Kyung Mo KM Yoo Han-Wook HW

Pediatric gastroenterology, hepatology & nutrition 20190911 5

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 pati ...[more]

PMID: 31555573

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