Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).
Klin Padiatr
; 223(2): 85-9, 2011 Mar.
Article
em En
| MEDLINE
| ID: mdl-21271505
ABSTRACT
Adenosin deaminase (ADA) deficiency is the cause for Severe Combined Immunodeficiency (SCID) in about 15% of patients with SCID, often presenting as T (-)B (-)NK (-)SCID. Treatment options for ADA-SCID are enzyme replacement, bone marrow transplantation or gene therapy. We here describe the first patient with ADA-SCID and fatal hepatic failure despite bone marrow transplantation from a 10/10 HLA identical related donor. As patients with ADA-SCID may be at yet underestimated increased risk for rapid hepatic failure we speculate whether hepatitis in ADA-SCID should lead to the immediate treatment with enzyme replacement by pegylated ADA.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Falência Hepática
/
Hiperbilirrubinemia Neonatal
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Klin Padiatr
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Alemanha