Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria

S. Chaudhury*, L. Hormaza, S. Mohammad, J. Lokar, U. Ekong, E. M. Alonso, M. S. Wainwright, M. Kletzel, P. F. Whitington

*Corresponding author for this work

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

Mevalonic aciduria because of mutations of the gene for mevalonate kinase causes limited synthesis of isoprenoids, the effects of which are widespread. The outcome for affected children is poor. A child with severe multisystem manifestations underwent orthotopic liver transplantation at age 50 months for the indication of end-stage liver disease. This procedure corrected liver function and eliminated portal hypertension, and the patient showed substantial improvement in neurological function. However, autoinflammatory episodes continued unabated until hematopoietic stem cell transplantation was performed at 80 months. Through this complex therapy, the patient now enjoys a high quality of life without significant disability. The authors report a favorable outcome following orthotopic liver transplant and reduced intensity conditioning unrelated hematopoietic stem cell transplant in a patient with severe mevalonic aciduria.

Original languageEnglish (US)
Pages (from-to)1627-1631
Number of pages5
JournalAmerican Journal of Transplantation
Volume12
Issue number6
DOIs
StatePublished - Jun 1 2012

Keywords

  • Liver failure
  • mevalonic aciduria
  • reduced intensity conditioning
  • transplantation

ASJC Scopus subject areas

  • Immunology and Allergy
  • Transplantation
  • Pharmacology (medical)

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