MEFV异合体儿童的旅程:有或没有素
Mustafa Çakan1, Ayşenur Alkaya2, Lütfiye Koru3
1Department of Pediatric Rheumatology, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Dr Burhanettin Üstünel Cad. No 10, 34668, İstanbul, Türkiye. mustafacakan@hotmail.com.
European journal of pediatrics
|November 24, 2024
概括
一小部分家族地中海热 (FMF) 基因携带者会出现FMF症状,通常在2-3年内出现. 不建议对MEFV基因携带者进行家庭常规查,除非存在粉样性粉症或FMF类症状.
科学领域:
- 儿科风湿病学 儿科风湿病学
- 临床遗传学 临床遗传学
- 基因携带者查 基因携带者查
背景情况:
- 家庭地中海热 (FMF) 是一种自身炎症性疾病.
- MEFV基因突变是导致FMF的原因.
- 识别携带者和预测疾病进展至关重要.
研究的目的:
- 为了确定小儿MEFV基因携带者中素使用率.
- 为了确定这一群体中需要使用菌素治疗的预测因素.
- 评估MEFV基因携带的临床意义.
主要方法:
- 在9个中心对869名患有MEFV基因携带者的儿童进行了回顾性审查.
- 医疗记录的分析,随访时间中位数为28个月.
- 统计分析,以确定与粉素使用相关的变量.
主要成果:
- 在13.9%的MEFV基因携带者中,启动了胆固醇治疗.
- 科尔奇辛使用的预测因素包括粉样性粉症的家族史,由儿科风湿病学家下令的MEFV基因分析,以及类似于FMF的症状.
- 大多数携带者在随访后2-3年内发展出FMF症状.
结论:
- 一小部分MEFV基因携带者会发展出FMF症状,需要进行菌素治疗.
- 针对性查是建议的个人与家族史的粉样性粉症或那些呈现的粉样性粉症的症状.
- 这些数据不支持在没有特定风险因素的家庭中进行常规MEFV基因载体查.
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