Abstract: Objective　To explore the key points of diagnosis for familial Mediterranean fever（FMF） and the genotype-phenotype correlations. Methods　The genetic testing and clinical manifestations of 10 patients with MEFV gene mutation and recurrent fever were retrospectively analyzed. The key points of diagnosis of familial Mediterranean fever（FMF） and the genotype-phenotype correlations were summarized by reviewing related articles. Results　Four MEFV gene mutations were identified in 10 patients，including G304R，E148Q，P369S，and R408Q. In 10 patients，4 cases had homozygous mutation（40.0%），2 cases had heterozygous mutation（20.0%），and 4 cases had complex mutation（40.0%）. Nine of the 10 patients had recurrent fever，and one had recurrent suppurative tonsillitis. According to the criteria of Tel Hashomer，1 patient was highly suspected of having FMF，and 8 patients had clinically suspected FMF，while on the basis of the Pediatric Standard of Turkish，7 of the 10 patients had clinical diagnosis of FMF. Conclusion　FMF is a clinical diagnosis，which can be supported but not excluded by genetic testing. Patients with M694V homozygous mutation are more at risk of early onset，developing a severe phenotype with very high probability；while the pathogenicity of E148Q is controversial and，as the only mutation，does not support the diagnosis of FMF. The incidence of FMF in Chinese children may be under-estimated，so more and further researches are still needed.

Key words: MEFV gene, familial mediterranean fever, juvenile idiopathic arthritis

摘要： 目的　探讨在非高危人群中家族性地中海热（FMF）的诊断要点及其临床表现与基因型的关系。方法　回顾性分析重庆医科大学附属儿童医院2016-07-27—2017-11-15收治的10例反复发热伴MEFV基因突变患儿的基因检测报告及临床表现，结合国内外FMF相关文献，对诊断要点及其临床表现与基因型进行总结归纳。结果　10例患儿中共发现4个MEFV基因突变，分别为G304R、E148Q、P369S、R408Q，其中纯合突变4例（40.0%），杂合突变2例（20.0%），复杂突变4例（40.0%）。10例患儿中9例有反复发热，1例有反复化脓性扁桃体炎。该10例患儿根据Tel Hashomer标准，有1例患儿疑似诊断FMF，有8例患儿临床怀疑FMF；若根据Turkish儿科标准，则有7例患儿可临床诊断FMF。结论　FMF主要依靠临床诊断，可以通过基因检测来支持但不一定排除。携带M694V纯合型突变的FMF患者比其他突变的患者起病年龄更早，临床表现很可能更严重；而E148Q的致病性存在争议，其作为惟一突变时不支持FMF诊断。中国儿童中FMF发病率可能被低估，尚需纳入更多的研究对象，进一步研究。

关键词: MEFV基因, 家族性地中海热, 幼年特发性关节炎