Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1 / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 479-486, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-760868
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transferases
/
Testes Genéticos
/
Colestase
/
Colestase Intra-Hepática
/
Transplante de Fígado
/
Falência Hepática
/
Esteatorreia
/
Fígado Gorduroso
/
Coreia (Geográfico)
/
Cirrose Hepática Biliar
Limite:
Criança
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Ano de publicação:
2019
Tipo de documento:
Artigo
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