Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 201-206, 2019.
Artículo
en Inglés
| WPRIM
| ID: wpr-741823
ABSTRACT
Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Prurito
/
Rifampin
/
Conductos Biliares
/
Biopsia
/
Fibrosis
/
Células Gigantes
/
Colestasis
/
Colestasis Intrahepática
/
Hermanos
/
Esteatorrea
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Año:
2019
Tipo del documento:
Artículo
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