秋水仙碱治疗儿童家族性地中海热12例分析

Colchicine therapy for Chinese children with familial Mediterranean fever:An analysis of 12 cases

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 assess the efficiency of colchicine therapy in the treatment of Chinese pediatric patients with familial Mediterranean fever （FMF）. Methods In the prospective trial, pediatric patients with proven FMF, either by Tel Hashomer criteria or by MEFV gene testing, received colchicine treatment. The following indexes and results were recorded, including the clinical manifestations and signs, CRP, ESR, MEFV sequencing results of pathogenic genes, and the dosage ,effective rate and follow-up of colchiciue treatment. Results Twelve children（ 10 diagnosed by Tel Hashom- er criteria vs. 2 by MEFV sequencing） were enrolled in the study, with the median age at diagnosis/initiation of colchicine of 8 （ 1 - 10） years. They received colchicine treatment at the dose of 0.01 - 0.025 mg/（kg· d）. Among them 11 completed the study, while 1 （8.3%） had anaphylaxis and quit. During a median follow-up of 11 （8- 38 ） months, the response rate was 100%. Conclusion Colchicine is effective in Chinese children patients with FMF, which should be given as earlier as possible to prevent the consequent damage caused by chronic inflammation.