Background

Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene.

Methods

A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018.

Results

A total of 454 patients with familial Mediterranean fever were evaluated. The median age of diagnosis was 60 months (min–max: 6–228) and the percentage of patients who were male was 57.5%. A MEFV gene mutation was determined in 310 (68.3%) children. The most frequent genetic mutation was a R202Q heterozygote mutation, which was found in 95 patients (20.9%). When compared with MEFV-negative patients, elevation of serum amyloid A and fibrinogen levels during an episode of FMF was found to occur more frequently in MEFV-positive patients (p = 0.019 and 0.027, respectively). Male gender, cigarette exposure, and a younger diagnosis age were seen more frequently in patients who had episodes with fever (p = 0.039, 0.022, and 0.001, respectively). Chronic cough with sputum and persistent purulent rhinitis were more frequent in the group which did not experience fever episodes (p = 0.003 and 0.002, respectively).

Conclusions

While being a periodic fever syndrome, familial Mediterranean fever also presents as a multisystemic disease with heterogeneous clinical symptoms. Severe atopic diseases and recurrent respiratory tract infections are characteristic features of this disease.

中文翻译：

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MEFV基因及其与家族性地中海热，严重的特应性疾病和反复呼吸道感染的关系。

背景

家族性地中海热（FMF）是最常见的自体炎症，其特征是发烧和多发性浆膜炎的自限性发作。这项研究的目的是确定与MEFV基因相关的特应性临床发现。

方法

对2015年8月至2018年11月间被诊断为家族性地中海热的儿科患者进行回顾性图表审查。

结果

对总共454例家族性地中海热患者进行了评估。诊断的中位年龄为60个月（最小至最大：6-228），男性患者的百分比为57.5％。一个MEFV基因突变是在310（68.3％），子女确定。最常见的基因突变是R202Q杂合子突变，在95位患者中发现（20.9％）。与MEFV阴性患者相比，在MEFV阳性患者中，FMF发作期间血清淀粉样蛋白A和纤维蛋白原水平的升高更常见（ 分别为p = 0.019和0.027）。发烧发作的患者中男性，香烟接触和诊断年龄更年轻（p 分别为0.039、0.022和0.001）。在没有发烧的人群中，咳嗽和咳嗽持续性化脓性鼻炎更为常见（ 分别为p = 0.003和0.002）。

结论

家族性地中海热虽然是一种周期性发烧综合症，但也表现为多系统疾病，临床症状多样。严重的特应性疾病和反复的呼吸道感染是该疾病的特征。