低身高与低血清性酸酶活性:低酸酶的病例报告
Donghyun Lee1, So Yun Park1, Heung Sik Kim2
1Department of Pediatrics, Keimyung University Dongsan Hospital, Keimyung University School of Medicine, Daegu, Korea.
Annals of pediatric endocrinology & metabolism
|January 4, 2024
概括
低度症 (HPP) 是一种罕见的遗传疾病,影响骨矿化. 即使没有明显的骨变形,在身高矮和性酸酶低的儿童中,早期识别是至关重要的.
科学领域:
- 儿科 儿科 儿科
- 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:
- 低度症 (HPP) 是一种罕见的遗传代谢障碍.
- 它的特点是缺陷的骨矿化,具有可变的临床表现.
- 矮身是儿科病例中HPP的一个关键指标.
研究的目的:
- 突出考虑HPP在身高矮的儿童中的重要性.
- 报告通过遗传检测诊断的HPP病例.
- 强调HPP诊断,即使没有明显的骨异常.
主要方法:
- 对一个身材矮小的3.5岁男孩的临床表现分析.
- 实验室调查包括,,维生素D和性酸酶水平.
- 针对新生代谢错误的下一代测序,专注于ALPL基因.
主要成果:
- 患者的身材矮小,过渡性高血症和轻微的步态障碍.
- 发现了较低的性酸酶水平,和维生素D水平正常.
- 在ALPL基因中发现了一种致病性异构基因突变 (c.979T>C,p.Phe327Leu).
结论:
- 临床医生应该怀疑小身高,身高速度下降和性酸酶低的儿童的HPP.
- 基因检测对于确认HPP至关重要,特别是当骨发育不良不明显时.
- 及时诊断HPP对于适当的管理和干预至关重要.
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