在科尔奇辛治疗中患有家族地中海热的儿童的生长和青春期发育
Ozge Bayrak Demirel1, Selen Duygu Arik2, Tugce Kandemir3
1Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. ozge.bayrakdemirel@istanbul.edu.tr.
European journal of pediatrics
|December 29, 2025
概括
患有家族地中海热 (FMF) 的儿童经历了晚期青春期的完成,但保持了正常的最终身高,特别是在菌素治疗中. 监测青春期进展对于儿科FMF患者的良好结果至关重要.
科学领域:
- 儿科风湿病学 儿科风湿病学
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
背景情况:
- 家庭地中海热 (FMF) 是儿童中最常见的遗传性自身炎症性疾病.
- 胆固醇治疗对线性生长是有效的,但它对FMF青春期发育的影响需要进一步研究.
- 关于被诊断患有FMF的儿童的青春期特征的数据有限.
研究的目的:
- 评估FMF儿童的生长和青春期发展.
- 为了比较青春期的时间和FMF患者的最终身高与国家参考数据.
- 探索MEFV基因变异与青春期特征之间的潜在关联.
主要方法:
- 140名患有FMF的儿童 (8-18岁) 的回顾性横截面研究.
- 对人体测量,青春期 (坦纳分期) 和遗传数据 (MEFV基因突变) 的分析.
- 将患者数据与青春期时间和最终身高 (FH) 与目标身高 (TH) 的国家参考标准进行比较.
主要成果:
- 青春期的开始与健康的同龄人相似;然而,青春期的完成被推迟了,特别是在男性中.
- 最终的身高在很大程度上保持了,83.3%的女性和91.7%的男性达到或超过了目标身高.
- 与非携带者相比,携带M694V变异的男性表现出更早的青春期发作.
结论:
- 患有FMF的儿童在很大程度上保持了生长和最终的身高,尽管青春期的完成延迟了,特别是当使用菌素治疗时.
- 定期监测青春期进展对于患有FMF的儿童至关重要.
- 在FMF中有效的疾病管理支持积极的发育轨迹.
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