低性酸盐血症牙类型:一个病例报告
Weihua Liu1, Xiaoyang Min1, Hongli Wang2
1Department of Pediatrics, Xi'an First Hospital, The First Affiliated Hospital of Northwestern University, China.
Clinical medicine insights. Pediatrics
|June 19, 2024
概括
牙低度症 (HPP) 是罕见的,经常出现轻微的症状. 本案例研究详细介绍了一名患有odonto-HPP的儿童,确定了两个ALPL基因突变,包括一个新的突变,与早期牙损失和低性酸酶有关.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生化学
- 儿科 儿科 儿科
背景情况:
- 牙低度症 (HPP) 是一种遗传性代谢障碍,其特点是骨和牙矿化有缺陷.
- 编码组织非特异性性酸酶 (TNSALP) 的ALPL基因突变导致HPP.
- HPP的牙表现通常是轻微的或被忽视的,导致诊断不足.
研究的目的:
- 调查怀疑患有Odonto-HPP的儿童的临床,遗传和生化特征.
- 为了确定 ALPL 基因中潜在的基因突变,该基因负责患者的病情.
- 分析与odonto-HPP相关的生物化学参数.
主要方法:
- 对一个被诊断为odonto-HPP的儿童进行临床数据收集和分析.
- 使用桑格测序和高通量第二代测序对ALPL基因进行基因分析.
- 血清性酸酶 (ALP),活性维生素D和血液水平的生物化学分析.
主要成果:
- 患者出现了叶落牙的早期丧失和血清ALP水平显著降低.
- 遗传分析显示ALPL基因中有两个错误突变:来自父亲的c.542C>T (p.Ser181Leu) 和来自母亲的c.644T>C (p.Ile215Thr).
- 鉴定出c.644T>C (p.Ile215Thr) 突变是新型突变,并没有观察到口腔X射线异常.
结论:
- 奥多多-HPP主要表现为早期的落叶牙损失和低血清ALP水平.
- 发现的新型ALPL基因突变 (c.644T>C,p.Ile215Thr) 导致了odonto-HPP的表型.
- 综合性遗传和生化评估对于诊断非典型或轻度形式的HPP至关重要.
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