NovelATP8B1Gene 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 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.

Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases

“…However, liver enzyme levels were elevated with severe fatty change, mild portal inflammation, severe bile duct damage, and bile ductular proliferation on liver biopsy at posttransplant 4 months ( Fig. 2A ) [ 10 ]. Graft function progressively deteriorated.…”

“…Growth retardation is significantly improved after LT [ 11 , 12 ]. Although PFIC is a well-known disease worldwide, there are only a few case reports and a small case series on PFIC in Korean patients [ 7 , 10 ].…”

Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report

“…Typically, PFIC1 occurs during the first year of life. Patients usually present with jaundice, icterus, severe pruritus, and hepatomegaly, along with several extrahepatic manifestations that are unique to PFIC1 [ 6 ]. They include pancreatitis, sensory neural deafness, and short stature [ 6 ].…”

“…Patients usually present with jaundice, icterus, severe pruritus, and hepatomegaly, along with several extrahepatic manifestations that are unique to PFIC1 [ 6 ]. They include pancreatitis, sensory neural deafness, and short stature [ 6 ]. In addition to the common phenotype, high serum bile acids, normal gamma-glutamyl transferase (GGT), and deficiency in fat-soluble vitamins, clinical diagnosis is confirmed by genetic testing.…”