Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Pediatr Blood Cancer
; 54(5): 758-60, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20052779
ABSTRACT
We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Recém-Nascido Prematuro
/
Colestase
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Mutação de Sentido Incorreto
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Deficiência de Glucosefosfato Desidrogenase
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Anemia Hemolítica Congênita não Esferocítica
/
Icterícia Neonatal
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Kernicterus
Limite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Pediatr Blood Cancer
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Alemanha