Li J, Zhang Y, Wang W, Zhong L Q, Song H M
Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Er Ke Za Zhi. 2017 May 4;55(5):383-387. doi: 10.3760/cma.j.issn.0578-1310.2017.05.015.
To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years). All the 3 cases presented with periodic fever, red rash and arthritis.Two of them suffered from anemia, 2 of them showed lymphadenopathy, and 1 of them presented with hepatosplenomegaly. All of the 3 cases were diagnosed as JIA by excluding infectious diseases and neoplastic diseases and respondiug poorly to anti-infection treatment, but they benefitted little from glucocorticoids and a variety of immunosuppressive therapy. The mutations of MEFV gene were found in 3 cases by gene detection, and all of them were complex heterozygous mutations. Four reported pathogenic mutations were found: R202Q, E148Q, L110P, P369S. All the 3 cases are currently receiving oral colchicine (in accordance with the initial dose of children under the age of 5 recommended ≤ 0.5 mg/d, 5 to 10 years old children 0.5-1.0 mg/d, 10 years old children and older children 1.0-1.5 mg / d) , and the symptoms were significantly improved. The familial Mediterranean fever can be characterized by repeated remittent fever, red rash, arthritis, and is easy to be confused with JIA in clinical manifestation.In this paper, 3 cases were diagnosed as complex heterozygous MEFV gene mutation by gene analysis.During the 6 months follow-up, all of the 3 patients responded well to colchicine.
探讨家族性地中海热(FMF)的诊断与治疗要点。回顾性收集2014年1月至2016年6月在北京协和医院被误诊为幼年特发性关节炎(JIA)的3例FMF患者的临床资料,并对其临床表现、基因突变特征、治疗及预后进行评估。3例患者中,2例为男性,1例为女性。发病年龄平均为17个月(3个月至36个月),确诊年龄平均为6岁8个月(24个月至11岁)。3例均表现为周期性发热、红色皮疹及关节炎。其中2例有贫血,2例有淋巴结肿大,1例有肝脾肿大。3例均经排除感染性疾病及肿瘤性疾病后被诊断为JIA,抗感染治疗效果不佳,糖皮质激素及多种免疫抑制治疗效果也欠佳。基因检测发现3例均存在MEFV基因突变,且均为复合杂合突变。共发现4种已报道的致病突变:R202Q、E148Q、L110P、P369S。3例目前均口服秋水仙碱(按照5岁以下儿童初始剂量推荐≤0.5mg/d,5至10岁儿童0.5 - 1.0mg/d,10岁及以上儿童1.0 - 1.5mg/d),症状均明显改善。家族性地中海热以反复弛张热、红色皮疹、关节炎为特点,临床表现易与JIA混淆。本文通过基因分析确诊3例为复合杂合性MEFV基因突变。随访6个月期间,3例患者秋水仙碱治疗反应良好。