Mevalonate kinase deficiency - Evidence for a phenotypic continuum
Mevalonate kinase deficiency - Evidence for a phenotypic continuum
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DOI：
10.1212/01.wnl.0000115390.33405.f7
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发表时间：
2004-03-23
期刊：
影响因子：
9.9
通讯作者：
Drenth, JPH
中科院分区：
文献类型：
--
作者：
Simon, A;Kremer, HPH;Drenth, JPH
以精神运动迟缓、小脑性共济失调、反复发热和儿童早期死亡为特征的甲羟戊酸尿症，以及伴有反复发热而无神经系统症状的高免疫球蛋白D（高igd）综合征，都是由甲羟戊酸激酶功能缺乏引起的。在对已知甲羟戊酸激酶缺陷患者的系统回顾中，作者确定了5名在这两种综合征之间存在表型重叠的成年人，这表明疾病谱系是连续的。甲羟戊酸激酶缺乏症应考虑在成人患者符合神经系统症状，有或没有周期性发热发作。
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase. In a systematic review of known mevalonate kinase - deficient patients, the authors identified five adults with phenotypic overlap between these two syndromes, which argues for a continuous spectrum of disease. Mevalonate kinase deficiency should be considered in adult patients with fitting neurologic symptoms, with or without periodic fever attacks.