Correction of congenital erythropoietic porphyria by bone marrow transplantation.
J Pediatr
; 129(3): 453-6, 1996 Sep.
Article
em En
| MEDLINE
| ID: mdl-8804339
ABSTRACT
Congenital erythropoietic porphyria (Gunther disease) is a rare metabolic disorder caused by uroporphyrinogen III synthetase deficiency. We report the case of a 2-year-old girl with a severe form of this disease who received HLA-identical bone marrow transplantation from her heterozygous sister. Two transplantations were necessary to obtain full hematopoietic chimerism. Correction of the enzyme deficiency was confirmed by measuring erythrocyte uroporphyrinogen III synthetase activity. The patient's clinical condition improved dramatically, and she is well 1 year after the second transplantation, with no further treatment. Although long-term efficacy remains to be confirmed, we conclude that allogeneic bone marrow transplantation can cure patients with congenital erythropoietic porphyria.
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Base de dados:
MEDLINE
Assunto principal:
Transplante de Medula Óssea
/
Porfiria Eritropoética
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
França