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目的探讨秋水仙碱对中国儿童家族性地中海热(FMF)的疗效。方法 2013年1月至2016年6月北京协和医院儿科经Tel Hashomer临床诊断或基因检测证实为FMF的12例患儿,加用秋水仙碱治疗。记录每例患儿的临床表现及体征、C反应蛋白(CRP)、红细胞沉降率(ESR)等非特异性炎性指标结果,致病基因MEFV测序结果,以及秋水仙碱用药剂量、有效率和随访情况等。结果 12例患儿中10例经Tel Hashomer临床诊断标准确诊,其中4例基因检测又证实;另2例经基因检测而确诊。确诊FMF时的年龄中位数为8岁(1~10岁)。12例均接受秋水仙碱治疗,剂量为0.01~0.025 mg/(kg·d)。其中1例因过敏反应停药,其余用药至随访终点。加用秋水仙碱后中位随访时间11个月(8~38个月),按照有效的评价标准,11例持续用药均有效。结论秋水仙碱对中国儿童FMF治疗有效,对临床或基因确诊病例应早开始秋水仙碱治疗,改善预后。
Objective To investigate the effect of colchicine on familial Mediterranean fever (FMF) in Chinese children. Methods From January 2013 to June 2016, 12 children with FMF confirmed by Tel Hashomer’s clinical diagnosis or genetic test of pediatric department of Peking Union Medical College Hospital were treated with colchicine. The clinical manifestations and signs, non-specific inflammatory markers such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were recorded in each child. The results of MEFV sequencing and the dose, efficiency and follow-up of colchicine Situation and so on. Results Of the 12 children, 10 were diagnosed by Tel Hashomer clinical diagnostic criteria, of which 4 were confirmed by genetic testing and the other 2 were confirmed by genetic testing. The median age at diagnosis of FMF was 8 years (1 to 10 years). All 12 patients received colchicine, and the dose was 0.01-0.025 mg / (kg · d). One case was discontinued due to anaphylactic reaction, the rest of the drug to the end of follow-up. After the addition of colchicine, the median follow-up time was 11 months (ranged from 8 to 38 months). According to the effective evaluation criteria, 11 cases of continuous medication were effective. Conclusion Colchicine is effective in treating children with FMF in China. Colchicine should be started as soon as possible in clinical or genetically confirmed cases to improve the prognosis.