title: Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B.
abstract: Niemann-Pick type B (NP) is an autosomal recessive lysosomal storage disorder with variable phenotypes for which few patients have undergone hematopoietic progenitor cell (HPC) transplantation. We present an 18-month old with NP type B who underwent two allogeneic HPC transplants from her HLA-identical sister. Sphingomyelinase in the peripheral leucocytes and skin fibroblasts was absent at diagnosis. Engraftment failed following initial transplant; therefore a second with the same donor was performed. Engraftment since has been durable; all subsequent sphingomyelinase levels have been normal. Our experience indicates that HPC transplantation for patients with NP type B is feasible and beneficial.
authors.affiliation: Children's Memorial Hospital, Hematology/Oncology/Transplant, Chicago, Illinois, USA. jschneiderman@childrensmemorial.org
authors.forename: Jennifer
authors.initials: J
authors.lastname: Schneiderman
authors.forename: Kimberly
authors.initials: K
authors.lastname: Thormann
authors.forename: Joel
authors.initials: J
authors.lastname: Charrow
authors.forename: Morris
authors.initials: M
authors.lastname: Kletzel
mesh_terms: D016026:Bone Marrow Transplantation; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006086:Graft vs Host Disease / Q000188:drug therapy / Q000209:etiology; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects; D006801:Humans; D007223:Infant; D007963:Leukocytes, Mononuclear / Q000201:enzymology; D052537:Niemann-Pick Disease, Type B / Q000175:diagnosis / Q000201:enzymology* / Q000628:therapy*; D035781:Siblings; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis*; D019172:Transplantation Conditioning / Q000009:adverse effects; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: D013108:Sphingomyelin Phosphodiesterase