University of Puerto Rico School of Medicine, San Juan, PR.
Puerto Rico Women and Children's Hospital, Bayamón, PR.
P R Health Sci J. 2024 Sep;43(3):156-158.
Mevalonate kinase deficiency is a rare autosomal recessive disease caused by mutations in the mevalonate kinase gene (MVK). Depending on the mutations, a patient with this deficiency can exhibit any one of a spectrum of rare autoinflammatory diseases, such as hypergammaglobulinemia D (hyper-IgD) with periodic fever syndrome and mevalonic aciduria. To date, approximately 300 cases with mutations in the MVK gene have been reported worldwide. Herein, we present a 3-year-old female from Puerto Rico with a history of fever, arthralgia, and skin lesions since her first month of age and who, upon genetic workup, was confirmed to have compound heterozygous mutations in the MVK gene. Given her medical history and the results of her genetic testing, she was diagnosed with hyper-IgD with periodic fever syndrome. She will be treated with canakinumab, an interleukin-1ß antagonist, after receiving the varicella and measles-mumps-rubella (MMR) vaccines.
甲羟戊酸激酶缺乏症是一种罕见的常染色体隐性疾病，由甲羟戊酸激酶基因 (MVK) 突变引起。根据突变的不同，患有这种缺乏症的患者可能表现出任何一种罕见的自身炎症性疾病，如高免疫球蛋白血症 D (高-IgD) 伴周期性发热综合征和甲羟戊酸尿症。迄今为止，全世界已报告了大约 300 例 MVK 基因突变病例。在此，我们介绍一位来自波多黎各的 3 岁女性，她从出生第一个月开始就有发热、关节炎和皮肤损伤的病史，经基因检测证实为 MVK 基因的复合杂合突变。鉴于她的病史和基因检测结果，她被诊断为高-IgD 伴周期性发热综合征。在接种水痘和麻疹-腮腺炎-风疹 (MMR) 疫苗后，她将接受白细胞介素-1β拮抗剂卡那单抗治疗。
