新生儿多重骨折:低酸症的一个病例报告
Doua Khalid Al Homyani1, Shahad Khalid Al Hemaiani2, Qaydah Qayed Al Harthi1
1Division of Endocrinology, Department of Pediatrics, Taif Children's Hospital, Ministry of Health, Taif, Saudi Arabia.
Case reports in endocrinology
|November 10, 2025
概括
严重的围产期低 (HPP) 需要及时诊断和酶替代疗法 (ERT) 婴儿. 用阿斯酶α的早期干预对于管理这种罕见的遗传性骨疾病至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 儿科 儿科 儿科
背景情况:
- 低酸盐症 (HPP) 是一种罕见的遗传性代谢性骨疾病,由酸酶 (TNSALP) 组织非特异性异酶突变引起.
- 周产期HPP代表了最严重的形式,经常呈现出严重的呼吸道并发症.
研究的目的:
- 突出重症周产期HPP及时诊断的关键需要.
- 强调在出生后立即开始酶替代疗法 (ERT) 的重要性.
主要方法:
- 一个案例介绍了一个2个月大的女婴患有严重的围产期HPP.
- 基因分析证实了这一诊断.
- 治疗涉及使用阿尔法酸酶的酶替代疗法 (ERT).
主要成果:
- 婴儿出现了子宫内肢体低成形,关节骨折,发作,呼吸困难,骨低矿化,胸腔和肺部低成形以及高血症.
- 酸酸酶 (ALP) 水平低于检测极限 (LOD).
- 开始使用阿斯酶α的成功治疗.
结论:
- 早期和准确的诊断严重的围产期HPP对于启动拯救生命的ERT至关重要.
- 产科和临床遗传学团队之间的合作对于防止诊断延迟至关重要.
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