Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency
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DOI：
10.1542/peds.2006-2015
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发表时间：
2007-02-01
期刊：
影响因子：
8
通讯作者：
Ventura, Alessandro
中科院分区：
文献类型：
--
作者：
Nevyjel, Marco;Pontillo, Alessandra;Ventura, Alessandro
甲羟戊酸激酶缺乏症是一种罕见的类异戊二烯和甾醇生物合成的先天性疾病，其特征是复发性自身炎症综合征，在最严重的情况下，会出现精神运动迟缓。临床表现可能非常复杂，在某些情况下，类似于慢性炎症性疾病。诊断也很复杂，通常需要免疫学、遗传和生化研究。目前还没有标准化的治疗方法，但在某些情况下，生物制剂可以帮助控制炎症症状。本文报道了与肾炎相关的甲羟戊酸激酶缺乏症的严重病例，并用阿那白滞素（白细胞介素 1 受体拮抗剂）成功治疗，并讨论了这种复杂疾病的诊断和治疗的新见解。
Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay. Clinical manifestations can be very complex and, in some cases, mimic a chronic inflammatory disease. Diagnosis is also complex and often requires immunologic, genetic, and biochemical investigations. There is no standardized therapy, but biological agents could help to control inflammatory complaints in some cases. A severe case of mevalonate kinase deficiency that was associated with nephritis and successfully treated with anakinra (interleukin 1 receptor antagonist) is reported here, and new insights into diagnosis and therapy of this complex disorder are discussed.