HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant.

Abstract
Allogenic bone marrow transplantation (BMT) was carried out on a 3-year-old white caucasian girl with Niemann-Pick disease (NPD) type B. The donor was her unaffected brother. The patient was neurologically normal at the time of transplantation. Engraftment was based on cytogenetic studies and increased leukocyte acid sphingomyelinase (ASM) activity. However, liver biopsies taken up to 33 months post transplantation showed only a moderate reduction in stored sphingomyelin and no significant increase in ASM activity. The post-transplantation period was complicated by severe graft-versus-host disease and a respiratory arrest. By 6 years of age, neurological involvement was observed, including bilateral cherry red spots. The proband is now severely mentally and physically disabled. Liver cirrhosis has continued to progress despite the BMT, and haematemesis due to portal hypertension occurred at 17 years of age. However, pulmonary infiltration regressed after BMT and there has been no clinical evidence of pulmonary insufficiency.
AuthorsS Victor, J B S Coulter, G T N Besley, I Ellis, R J Desnick, E H Schuchman, A Vellodi
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 26 Issue 8 Pg. 775-85 ( 2003) ISSN: 0141-8955 [Print] United States
PMID14739682 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Topics
  • Adolescent
  • Bone Marrow Transplantation
  • Female
  • Follow-Up Studies
  • Graft vs Host Disease (etiology)
  • Growth
  • Humans
  • Mutation
  • Niemann-Pick Diseases (complications, physiopathology, therapy)
  • Transplantation, Homologous

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: