青少年和成年人的中脚和前脚疾病与X链接的低度血症
Florian Wenzel-Schwarz1,2, Celine C Akta1,2, Alexandra Stauffer1,2
1Department of Pediatric Orthopaedics and Foot Surgery, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130 Vienna, Austria.
Journal of clinical medicine
|November 27, 2024
概括
与X相关的低度血症 (XLH) 导致足部显著变形,包括平脚和足,影响成年人的关节健康和功能. 这项研究突出了这些致残的足部疾病在XLH患者的流行程度.
科学领域:
- 整形外科 整形外科 整形外科
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 与X相关的低酸血症 (XLH) 是一种罕见的遗传疾病,影响代谢.
- 下肢形在XLH中很常见,但足部的参与仍未得到充分研究.
研究的目的:
- 在XLH的青少年和成年人中描述足部病理.
- 在XLH患者中评估与脚相关的结局得分.
主要方法:
- 在XLH患者 (年龄≥16岁) 的身体检查和足部X射线.
- 放射分析包括骨关节炎,肠道病变和对齐.
- 评估美国整形足和脚协会 (AOFAS) 的成绩.
主要成果:
- 在XLH患者中,84.3%的患者表现出平脚形.
- 53.5%的人有异常的第一和第五足角,而36.0%的人患有.
- 中度至重度的关节退化在骨关节 (49%) 和骨关节 (41.2%) 中被发现,与AOFAS得分降低相关.
结论:
- XLH显著影响足部结构,导致骨变形和关节退化的高率.
- 前脚和中脚障碍在XLH中普遍存在,影响整体足部功能和患者报告的结果.
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