An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

[摘要] A (p.Val377Ile) mutation in the MVK gene. The patient was treated with colchicine for 8 months. During treatment, no further fever episode had been observed. It should be kept in mind that mevalonic acid excretion may not be present in the urine with mild MKD. Colchicine may be a reasonable option in mild MKD patients for a longer duration of treatment due to favorable adverse event profiles.

[学科分类] 基础医学

[关键词] Mevalonate kinase deficiency;Colchicine;Periodic fever syndromes