Abstract:

Mevalonate kinase deficiency（MKD） is a rare autosomal recessive autoinflammatory disease. There are two phenotypes of MKD based on the degree of the mevalonate kinase（MVK） deficiency and clinical symptoms，including hyperimmunoglobulinemia D with periodic fever syndrome（HIDS）and mevalonic aciduria（MA）. This article will systematically review  the pathogenesis，manifestations，diagnosis，treatment，and prognosis of this rare disease.

Key words: mevalonate kinase deficiency, hyperimmunoglobulinemia D with periodic fever syndrome, mevalonic aciduria, MVK gene

摘要：

甲羟戊酸激酶缺乏症（MKD）是一种罕见的自身炎症性疾病，属常染色体隐性遗传病。根据甲羟戊酸激酶（MVK）活性和临床表现不同，MKD又分高IgD伴周期性发热综合征（HIDS）和甲羟戊酸尿症（MA）两种亚型。文章系统阐述MKD发病机制、临床表现、诊断标准、治疗原则及预后，以提高临床医生对疾病的认识。

关键词: 甲羟戊酸激酶缺乏症, 高IgD综合征, 甲羟戊酸尿症, MVK基因