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Allogeneic bone marrow transplantation for Gaucher disease--a case report
1Department of Medicine, Veterans General Hospital-Taipei, Taiwan, R.O.C.
Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed
|June 1, 1997
Summary
Type 1 Gaucher disease, a rare genetic disorder, can cause painful hip issues and enlarged organs. Bone marrow transplantation offers an effective treatment, resolving symptoms and promoting normal growth in affected children.
Area of Science:
- Biochemistry
- Genetics
- Hematology
Background:
- Gaucher disease is a lysosomal storage disorder impacting multiple organs.
- Type 1 Gaucher disease presents with hepatosplenomegaly and bone abnormalities.
- Early diagnosis and intervention are crucial for managing Gaucher disease.
Observation:
- A Chinese patient with painful hip disability was diagnosed with Type 1 Gaucher disease.
- Initial splenectomy did not improve the patient's condition.
- Human leukocyte antigen (HLA)-matched sibling allogeneic bone marrow transplantation (BMT) was performed.
Findings:
- The bone marrow transplantation (BMT) procedure was successful with a smooth recovery.
- Despite a mixed chimeric state post-transplant, the patient's symptoms resolved.
- The patient experienced catch-up growth, reaching normal developmental levels.
Implications:
- Gaucher disease should be considered in differential diagnoses for unexplained hepatosplenomegaly and bone disorders.
- Allogeneic bone marrow transplantation (BMT) is a viable therapeutic option for Gaucher disease.
- Close monitoring for treatment-related risks and late complications is essential after BMT.