Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B

Jennifer Schneiderman*, Kimberly Thormann, Joel Charrow, Morris Kletzel

*Corresponding author for this work

Research output: Contribution to journalArticle

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)987-989
Number of pages3
JournalPediatric Blood and Cancer
Volume49
Issue number7
DOIs
StatePublished - Dec 1 2007

Keywords

  • Metabolic disorders
  • Niemann-Pick
  • Therapy
  • Transplantation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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