家族性地中海热儿童一级亲属的健康状况

Sema Yildirim, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, A. Aliyeva, A. Günalp, E. Aslan, Elif Kılıç Könte, Ümit Gül, S. Şahin, K. Barut, Özgür Kasapçopur
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摘要

背景。鉴于家族性地中海热(FMF)具有很强的遗传背景,经常报道的 FMF 儿童并存疾病也应在其他家庭成员中进行调查。因此,在本研究中,我们旨在检查 FMF 儿童患者一级亲属(FDRs)的医疗状况。连续 9 个月在儿科 449 名 FMF 患者、147 名幼年特发性关节炎(JIA)患者和 93 名健康对照组(HC)患者的常规临床就诊期间对其一级亲属的慢性疾病进行了询问。研究共纳入了 449 名 FMF 患者的 1975 份 FDR、147 名 JIA 患者的 690 份 FDR 和 93 名 HC 患者的 406 份 FDR。在 FMF、JIA 和 HC 组中,最常见的病症分别是非特应性哮喘(71 人,占 3.6%)、2 型糖尿病(14 人,占 2%)和扁桃体切除术史(12 人,占 2.95%)。特应性疾病(FMF vs. JIA:p=0.013;FMF vs. HC:p=0.014)、风湿性疾病(FMF vs. JIA:p=0.030;FMF vs. HC:p=0.017)和手术史(FMF vs. JIA:p<0.01;FMF vs. HC:p=0.026),包括腺样体切除术、扁桃体切除术和阑尾切除术,在FMF组明显多于其他组。我们的新发现可能有助于了解FMF患儿并存疾病的遗传负担,并鼓励开展涉及基因筛查的进一步研究。
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Health conditions of first-degree relatives of children with familial Mediterranean fever
Background. Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study. Methods. Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months. Results. A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups. Conclusions. Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings. 
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