1例家族性地中海热患儿临床特征及基因突变分析

Analysis of clinical features and gene mutations in a case of familial Mediterranean fever

目的探讨家族性地中海热(FMF)的临床特征及基因突变情况。方法选择该院收治的1例间断发热4+年的患儿(年龄13岁)。对该患儿进行全面的体格检查,检测C反应蛋白(CRP)、红细胞沉降率等非特异性炎性指标,筛查致病基因MEFV突变情况,并根据临床诊断进行相应治疗。结果患儿的临床表现符合针对儿童的FMF诊断标准,靶向捕获二代测序证实该患儿MEFV基因存在复合杂合突变,分别为c.442G>C(p.E148Q)和c.1588-69G>A,两个突变分别遗传自父母。给予秋水仙碱治疗后,随访7个月,患儿未再发热,红细胞沉降率降至正常。结论 FMF临床表现包括不定期反复发热,可自行缓解。通过基因突变和秋水仙碱治疗情况可以帮助诊断。

Objective To investigate the clinical features and gene mutations of familial Mediterranean fever (FMF). Methods A 13-year-old child who had intermittent fever for 4 + years was treated in our hospital.The child underwent a comprehensive physical examination to detect non-specific inflammatory indicators such as C-reactive protein (CRP) and erythrocyte sedimentation rate.At the same time,the mutation of the disease-causing gene MEFV in this child was screened and then the child was treated according to the clinical diagnosis. Results The clinical manifestations of this child were consistent with the diagnostic criteria for FMF in children.Targeted capture second-generation sequencing confirmed the presence of complex heterozygous mutations in the MEFV gene,c.442G>C(p.E148Q) and c.1588-69G>A,respectively.These two mutations were inherited from the parents.The child was given colchicine treatment and the follow-up of 7 months showed that the child did not have fever and the erythrocyte sedimentation rate was normal. Conclusion The clinical manifestations of FMF include irregular recurrent fever,which could be relieved by itself.Gene mutations and colchicine therapy might help diagnose.