Neven Bénédicte, Valayannopoulos Vassili, Quartier Pierre, Blanche Stéphane, Prieur Anne-Marie, Debré Marianne, Rolland Marie-Odile, Rabier Daniel, Cuisset Laurence, Cavazzana-Calvo Marina, de Lonlay Pascale, Fischer Alain
Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Paris, France.
N Engl J Med. 2007 Jun 28;356(26):2700-3. doi: 10.1056/NEJMoa070715.
Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces mevalonate kinase activity. A 3-year-old boy with mevalonic aciduria whose condition had failed to improve with antiinflammatory treatment underwent allogeneic bone marrow transplantation from an HLA-identical sister who was a heterozygous carrier of the mutant gene. We observed sustained remission of febrile attacks and inflammation during a 15-month follow-up period.
甲羟戊酸尿症是一种罕见的异戊二烯生物合成先天性代谢缺陷病，其特征为严重的周期性发热和炎症发作、发育迟缓、共济失调及畸形特征。这种常染色体隐性疾病由甲羟戊酸激酶基因突变引起，该突变会严重降低甲羟戊酸激酶活性。一名3岁的甲羟戊酸尿症男孩接受抗炎治疗后病情未见改善，随后接受了来自其HLA匹配的姐姐的异基因骨髓移植，其姐姐是突变基因的杂合携带者。在15个月的随访期内，我们观察到发热发作和炎症持续缓解。
