脏和尿路的先天性异常
Anfal Hussain Mahmoud1, Iman M Talaat1,2,3, Abdelaziz Tlili4
1Research Institute for Medical and Health Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.
Frontiers in medicine
|July 30, 2024
概括
脏和尿路的先天性异常 (CAKUT) 影响超过1%的出生. 环境和遗传因素会破坏发育,导致儿童慢性功能衰竭.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 发展生物学 发展生物学
- 遗传学 是一个遗传学.
背景情况:
- 脏和尿路的先天性异常 (CAKUT) 涵盖了影响脏和尿路发育的各种疾病.
- CAKUT影响超过1%的活产婴儿,是儿童慢性功能衰竭的主要原因.
- 病变发生涉及由于环境,遗传和表观遗传因素造成的瘤发生中断.
研究的目的:
- 审查导致CAKUT的主要环境和遗传因素.
- 为了突出 CAKUT 对脏发育和尿路功能的影响.
主要方法:
- 关于CAKUT病原学的文献综述.
- 环境风险因素的分析 (母亲的情况,物质).
- 对遗传因素的审查,包括特定的基因缺陷和单基因变异.
主要成果:
- 环境因素包括孕产妇糖尿病,肥胖,营养不良,酒精和某些药物.
- 遗传因素涉及甲基和尿道芽相互作用的破坏,涉及50多个基因.
- 单一的变种占CAKUT病例的20%.
结论:
- CAKUT是由复杂的相互作用引起的,这些相互作用破坏了正常的脏和尿路形成.
- 通过超声波和高级遗传测序 (GWAS,NGS) 进行早期诊断至关重要.
- 了解引起因素对于管理CAKUT及其长期后果至关重要.
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