The clinical spectrum of 94 patients carrying a single mutated MEFV allele
The clinical spectrum of 94 patients carrying a single mutated MEFV allele
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DOI：
10.1093/rheumatology/kep121
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发表时间：
2009-07-01
期刊：
影响因子：
5.5
通讯作者：
Touitou, Isabelle
中科院分区：
文献类型：
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作者：
Kone-Paut, Isabelle;Hentgen, Veronique;Touitou, Isabelle
方法。回顾性图表回顾的病人转到我们的复发性发烧。基因检测：系统筛选MEFV基因外显子2和10。对一部分患者也进行了其他自身炎症基因的调查。我们分析了94例患者（性别比：1）。其中42%是犹太人，17%是阿拉伯人。中位发病年龄为2岁（3个月- 47岁）。其中80例发热39℃，发作时间和频率各不相同（24小时：8；13天：56；3天：36；2个月：15；12个月：48；1个月：37）。腹膜炎97例，胸膜炎25例，关节痛53例；皮疹20例，溃疡18例，淋巴结病9例。MEFV突变为M694V（60）和M694I(7)。3/21的患者检测到R92Q TRAPS突变，1/6的患者检测到V377I MKD突变。相关疾病为周期性发热、口疮咽炎和腺炎综合征（4例）、AS（5例）、Crohns病（2例）和Castlemans病（1例）。法国杂合子患者复发性发热的临床表现与纯合子患者相似。大多数患者需要秋水仙碱治疗。
Method. A retrospective chart review of patients referred to us for recurrent fevers. Genetic testing: systematic screening of exons 2 and 10 was performed in the MEFV gene. A subset of patients was also investigated for other auto-inflammatory genes.Results. We analysed 94 patients (sex ratio:1). Forty-two percent of them were Jews and 17 were Arabs. The median age of onset was 2 years (3 months47 years). Fever was 39C in 80 of them, while the duration and frequency of an attack varied (24 h: 8; 13 days: 56; 3 days: 36; 2 months: 15; 12 months: 48; and 1 month: 37, respectively). Peritonitis occurred in 97, pleuritis in 25, arthralgia in 53; skin rashes in 20, aphthosis in 18 and lymphadenopathy in 9. MEFV mutations were M694V (60) and M694I (7). The R92Q TRAPS mutation was retrieved in 3/21 patients tested and the V377I MKD mutation in 1/6. Associated diseases in these patients were periodic fever, aphthosis pharyngitis and adenitis syndrome (4), AS (5), Crohns disease (2) and Castlemans disease (1).Conclusion. The clinical picture of French heterozygote patients with recurrent fevers resembles that of homozygote patients. Most of them required colchicine treatment.