Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1 / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 479-486, 2019.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Transferasas
/
Pruebas Genéticas
/
Colestasis
/
Colestasis Intrahepática
/
Trasplante de Hígado
/
Fallo Hepático
/
Esteatorrea
/
Hígado Graso
/
Corea (Geográfico)
/
Cirrosis Hepática Biliar
Límite:
Niño
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Año:
2019
Tipo del documento:
Artículo
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