临床实践中低性酸盐水平的评估:诊断低酸盐症的含义
Gonul Buyukyilmaz1, Serkan Bilge Koca2, Refika Gören3
1Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University Faculty of Medicine, Ankara, Türkiye. gonulgulal@hotmail.com.
Calcified tissue international
|August 19, 2025
概括
儿童持续低性酸酶 (ALP) 水平可能表明低酸酶 (HPP). 这项研究在4.6%的病例中发现持续的低ALP,在16名儿童中发现了HPP,这突显了提高疾病意识的必要性.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 持续低血清酸酸酶 (ALP) 水平是像低酸症 (HPP) 这样的遗传疾病的关键指标.
- 了解儿童低ALP的原因和特征对于及时诊断和管理至关重要.
研究的目的:
- 调查儿科患者持续低ALP水平的原因.
- 评估被诊断患有HPP的儿童的人口和临床特征.
- 扩大对HPP的表型和基因型资料的理解.
主要方法:
- 评估了2243名儿童和青少年 (0-19岁) 至少有两次低ALP读数.
- 分析了临床数据,确定了同时存在的疾病,并对ALPL基因变异进行了基因测试.
- 与血清pyridoxal酸盐 (PLP) 和尿液甲胺相关联的ALP水平.
主要成果:
- 95.4%的人有过渡性低ALP;4.6%的人有持续性低ALP.
- 卡路里耗尽是持续低ALP的最常见的非HPP原因.
- 确定了16名HPP患者 (0.71%),表现出显著的表型变异性和13种ALPL变体 (2种新型). 身高矮是最常见的症状.
结论:
- 持续低的ALP水平是各种疾病的重要指标,特别是儿童的HPP.
- 这项研究增强了对HPP遗传和临床谱的理解,强调需要对较轻症形式的认识,以防止诊断延迟.
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