Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 122-126, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-54805
ABSTRACT
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Testamentos
/
Colestasis Intrahepática
/
Conductos Biliares Extrahepáticos
/
Ictericia Obstructiva
/
Alelos
/
Heterocigoto
/
Corea (Geográfico)
Límite:
Niño
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Año:
2012
Tipo del documento:
Artículo
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