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N Engl J Med ; 390(7): 623-629, 2024 Feb 15.
Article in English | 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.


Subject(s)
Dietary Fats , Enzyme Replacement Therapy , Hematopoietic Stem Cell Transplantation , Immunologic Factors , Rituximab , Wolman Disease , Humans , Infant , B-Lymphocytes/drug effects , B-Lymphocytes/immunology , Chimerism , Dietary Fats/adverse effects , Enzyme Replacement Therapy/methods , Hematopoietic Stem Cell Transplantation/methods , Immunologic Factors/therapeutic use , Rituximab/therapeutic use , Transplantation, Homologous , Wolman Disease/diet therapy , Wolman Disease/drug therapy , Wolman Disease/immunology , Wolman Disease/therapy
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