关键词: 家族性地中海热；　MEFV基因；　发热；　秋水仙碱；　儿童

Abstract: Objective　To explore the clinical characteristics, diagnosis and treatment of familial Mediterranean fever (FMF) in children. Method　The clinical data and the variation of MEFV gene in two FMF children were analyzed, and the related literature was reviewed. Results　Case 1 was a 6-year- and 3-month-old female, and case 2 was a 3 year old male. Both patients presented with recurrent fever and increased non-specific inflammatory indicators. The MEFV complex heterozygous mutation was confirmed by gene sequencing in case 1, and the clinical symptoms were relieved after colchicine treatment. The MEFV nucleic acid site mutation was confirmed by gene sequencing in case 2, but the corresponding protein was not changed, and his fever improved significantly after colchicine treatment. Conclusion　It is necessary to be aware of FMF in children with recurrent fever and increased nonspecific inflammatory index after routine treatment.

Key words: 　familial Mediterranean fever;　MEFV gene;　fever;　colchicine;　child