High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
N Engl J Med
; 390(7): 623-629, 2024 Feb 15.
Article
em En
| MEDLINE
| ID: mdl-38354141
ABSTRACT
Wolman's disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman's disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Gorduras na Dieta
/
Doença de Wolman
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Transplante de Células-Tronco Hematopoéticas
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Terapia de Reposição de Enzimas
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Rituximab
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Fatores Imunológicos
Limite:
Humans
/
Infant
Idioma:
En
Revista:
N Engl J Med
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Estados Unidos