Allogeneic bone marrow transplantation for Gaucher disease - A case report

Chueh Chuan Yen, Tzeon Jye Chiou, Ching Yuang Lin, Nai Hwei Wang, Po Min Chen

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1 Citation (Scopus)

Abstract

A Chinese patient who presented painful disability of right hip was diagnosed as having type 1 Gaucher disease four years later when hepatosplenomegaly was found. Splenectomy was performed but her condition did not improve. So human leukocyte antigen (HLA)-matched sibling allogeneic bone marrow transplantation (BMT) was performed. The transplantation course was smooth. Although her bone marrow was in mixed chimeric state, symptoms disappeared and her growth caught up with normal level after BMT. Gaucher disease should be considered in cases with hepatosplenomegaly and bone disorder of unknown causes. Allogeneic BMT is an effective treatment, but the treatment-related risk should be seriously evaluated and the late complications should be closely monitored.

Original languageEnglish
Pages (from-to)372-376
Number of pages5
JournalChinese Medical Journal (Taipei)
Volume59
Issue number6
Publication statusPublished - Jun 1997
Externally publishedYes

Keywords

  • β-glucocerebrosidase
  • Bone marrow transplantation
  • Gaucher disease
  • Glucosylceramide

ASJC Scopus subject areas

  • General Medicine

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