Allogeneic bone marrow transplantation in mevalonic aciduria
Bénédicte Neven1, Vassili Valayannopoulos, Pierre Quartier
1Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Paris, France.
The New England Journal of Medicine
|June 29, 2007
Summary
Mevalonic aciduria, a rare genetic disorder, involves recurrent fevers and inflammation. Allogeneic bone marrow transplant led to sustained remission in a young patient, offering a potential new treatment avenue.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Mevalonic aciduria is a rare autosomal recessive disorder of isoprene biosynthesis.
- It presents with severe periodic fever, inflammation, developmental delay, ataxia, and dysmorphic features.
- The condition results from mutations in the mevalonate kinase gene, impairing enzyme activity.
Observation:
- A 3-year-old boy diagnosed with mevalonic aciduria showed no improvement with anti-inflammatory treatments.
- The patient underwent an allogeneic bone marrow transplantation.
- The donor was an HLA-identical sister who was a heterozygous carrier of the mevalonate kinase gene mutation.
Findings:
- The bone marrow transplant resulted in sustained remission of febrile attacks and inflammation.
- This remission was observed over a 15-month follow-up period post-transplantation.
- The patient's condition stabilized, indicating a positive therapeutic response.
Implications:
- Allogeneic bone marrow transplantation is a potential therapeutic strategy for severe mevalonic aciduria.
- This approach may offer long-term disease control for patients unresponsive to conventional therapies.
- Further research is warranted to explore the efficacy and safety of bone marrow transplantation in managing this rare genetic disorder.
