Bone marrow transplantation in a Hunter patient with P266H mutation.
Int J Mol Med
; 4(4): 433-6, 1999 Oct.
Article
em En
| MEDLINE
| ID: mdl-10493987
ABSTRACT
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a lysosomal disease caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS, EC 3.1.6.13). Affected patients show a wide spectrum of clinical phenotypes, from severe to mild. Mutational analysis on this disease resulted in the identification of more than 200 alterations. Bone marrow transplantation (BMT) is considered, at present, an appropriate therapy for MPS II subjects without severe neuropsychological impairment, however molecular analysis in BMT treated patients has been poorly studied. We describe here a patient subjected to BMT in 1995 whose IDS gene alteration, mutation P266H, was identified thereafter. The 4-year follow-up included clinical, biochemical and molecular parameters. DNA analysis showed, after BMT, coexisting host mutant and donor normal alleles, ensuring the effectiveness of the therapy and providing a fast and accurate tool to monitor the colonization of donor cells after treatment.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transplante de Medula Óssea
/
Mucopolissacaridose II
/
Iduronato Sulfatase
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Int J Mol Med
Ano de publicação:
1999
Tipo de documento:
Article