家族性地中海热的兄弟姐妹特征:单中心经验。

IF 1.3 Q3 PEDIATRICS Turkish archives of pediatrics Pub Date : 2025-01-02 DOI:10.5152/TurkArchPediatr.2025.24210
Elif Arslanoglu Aydin, Esra Baglan, İlknur Bagrul, Sunar Yayla Emine Nur, Nesibe Gokce Kocamaz, Ozdel Semanur
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摘要

目的:家族性地中海热(FMF)是一种遗传性自身炎症性疾病:家族性地中海热(FMF)是一种遗传性自身炎症性疾病。迄今为止,尚未在大规模群体中描述过患有 FMF 的兄弟姐妹的特征。本研究旨在探讨 FMF 患者兄弟姐妹的特征。材料和方法:这是一项回顾性横断面研究。根据确诊时间将患者分为两组(第一组,家庭中最先确诊的孩子;第二组,较晚确诊的兄弟姐妹)。研究结果共有 143 个兄弟姐妹(65 个家庭)患有 FMF。72%的患者与其兄弟姐妹具有相同的基因突变。尽管基因突变相同,但59%的患者的发病症状与兄弟姐妹不同。56%的患者的普拉斯疾病严重程度评分和45%的患者对秋水仙碱治疗的反应与具有相同基因突变的兄弟姐妹不同。据统计,第一组患者发热和腹痛的频率明显高于第二组(P = 0.032)。据统计,第一组的发病年龄低于第二组(P = 0.031)。双胞胎的基因突变、发病症状和秋水仙碱反应相同。半数双胞胎的发病年龄和确诊年龄也相同。结论被诊断为 FMF 患儿的家长应了解 FMF 疾病的所有症状,以及兄弟姐妹可能出现不同的临床表现。
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Characteristics of Siblings with Familial Mediterranean Fever: A Single-Center Experience.

Objective: Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease. The characteristics of siblings with FMF have not been described in large cohorts up to now. This study aimed to examine the features of siblings with FMF. Materials and Methods: This was a retrospective, cross-sectional study. Patients were divided into 2 groups according to the time of diagnosis (group I, the child diagnosed first in the family, and group II, the sibling diagnosed later). Results: A total of 143 siblings (65 families) with FMF were included in the study. Seventy-two percent of the patients had the same genetic mutation as their siblings. Despite having the same genetic mutation, 59% of the patients had different attack symptoms from their siblings. In 56% of the patients, the Pras disease severity score and in 45% of the patients, the response to colchicine treatment differed from their siblings with the same mutation. Fever and abdominal pain were statistically significantly more frequent in group I than in group II (P = .032). The age of disease onset in group I was statistically lower than in group II (P = .031). Genetic mutations, attack symptoms, and colchicine response were the same in twin pairs. The age of disease onset and age at diagnosis were also the same in half of the twin pairs. Conclusion: Parents of children diagnosed with FMF should be informed of all the symptoms of FMF disease and that siblings may present with different clinical findings.

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