基因检测在患有脏疾病的印度儿童中的临床实用性
Anshuman Saha1, Shahenaz F Kapadia2, Kinnari B Vala2
1Department of Pediatric Nephrology, Institute of Kidney Diseases and Research Centre, Gujarat University of Transplantation Sciences, Ahmedabad, India. drasaha1980@gmail.com.
BMC nephrology
|July 18, 2023
概括
基因检测在46%的儿童中诊断出遗传性病,有助于进行新的或修订的诊断以进行个性化管理. 这一分析强调了基因检测在儿科病学中的临床实用性.
科学领域:
- 儿科脏病学 儿科脏病学
- 临床遗传学 临床遗传学
- 基因组医学是基因组医学.
背景情况:
- 儿童遗传性病往往具有重叠的症状,使诊断复杂化.
- 准确的诊断对于有效的管理和预后至关重要.
研究的目的:
- 评估基因检测在诊断和管理疑似遗传起源的儿科脏疾病中的临床实用性.
- 确定基因检测在儿童脏疾病的各种类别的诊断产量.
主要方法:
- 一项回顾性研究包括接受基因检测的儿童 (≤18岁).
- 临床外基因组测序是主要的方法,并补充了其他遗传测试.
- 使用美国医学遗传学学院 (ACMG) 标准对变异进行分类.
主要成果:
- 在76名指数儿童中,基因检测在46%的儿童中产生了诊断.
- 在46.1%的确诊病例中,发现了致病或可能致病的变体.
- 诊断产量因病情而异,结石病/结石病显示81%和球体疾病显示29.4%.
结论:
- 基因检测非常有价值,在近一半的儿科患者中确立了基因诊断.
- 这些发现证实了临床诊断,导致了新的诊断,或修订了现有的诊断,促进了个性化的患者管理.
- 基因检测对怀疑遗传性脏疾病的儿童的诊断和治疗途径产生重大影响.
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