在中国患有骨质发育不完善症的患者中,心声学异常和关节高移动性
Yazhao Mei1, Yunyi Jiang1, Li Shen2
1Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Disease, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China.
Orphanet journal of rare diseases
|March 13, 2024
概括
骨质发育不完善 (OI) 患者,特别是年轻人,表现出更多的关节高移动性和心脏异常,如轻微的膜反. 建议对OI患者进行早期心声回声,因为可能会导致I型原体损伤.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
背景情况:
- 关于中国骨质发育不完善 (OI) 患者的心声学异常和关节高移动性的数据有限.
- 这项研究旨在调查这些特征及其在该人群中的相关性.
研究的目的:
- 描述中国OI患者的心声回声检测结果和关节高移动性.
- 为了确定这些疾病的患病率和相关性.
- 为了比较儿科和成人OI患者和健康对照组之间的发现.
主要方法:
- 一项涉及48名OI患者 (儿科和成人) 和129名健康对照者的横截面比较研究.
- 进行了跨胸腔心声扫描,参数被索引为身体表面积 (BSA).
- 贝顿评分评估了关节的超移动性.
主要成果:
- 在OI患者中,轻度的回 (心交,三,大动脉) 是常见的.
- 在青少年中,OI是左心脏直径和分数缩短的显著预测因素,在成人中,左心脏直径和左心室质量是左心脏直径和分数缩短的显著预测因素.
- 与成年人相比,OI青少年的关节高移动性更为普遍 (56%) 和严重 (20%),与青少年的心声学异常相关.
结论:
- 轻度的膜反是OI患者的主要心脏异常.
- 在OI的青少年中,比成年人更为普遍和严重的关节多动性.
- 早期基线回声心脏图对OI患者至关重要,这表明I型原蛋白显著受损.
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