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
en 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
Banco de datos:
MEDLINE
Asunto principal:
Grasas de la Dieta
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Enfermedad de Wolman
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Trasplante de Células Madre Hematopoyéticas
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Terapia de Reemplazo Enzimático
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Rituximab
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Factores Inmunológicos
Límite:
Humans
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Infant
Idioma:
En
Año:
2024
Tipo del documento:
Article