脏缺血的基因型和表型:来自中国的单中心研究
Lijun Mou1, Lina Zhu2, Xujiao Chen3
1Department of Nephrology, Zhejiang University School of Medicine Second Affiliated Hospital, Jiefang Rd 88, Hangzhou, 310009, Zhejiang, China.
Molecular diagnosis & therapy
|November 16, 2023
概括
在中国患者中,性高血 (RHUC) 与SLC22A12和SLC2A9基因变异有关. 运动诱导的急性损伤是一种常见的,但有利的结果,在某些情况下注意到过热.
科学领域:
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
- 生物化学 生物化学
背景情况:
- 脏缺血症 (RHUC) 是一种罕见的遗传性疾病,影响尿酸再吸收,主要是由SLC22A12或SLC2A9.9的变异引起的.
- 关于中国人群中RHUC的数据有限,只有事报告和一个小型查研究.
研究的目的:
- 调查中国患者中RHUC的遗传基础和临床表现.
- 为了识别与RHUC相关的SLC22A12和SLC2A9中的新型变异.
- 描述这个队列中的临床结果和相关条件.
主要方法:
- 从17个无关家庭招募了19名RHUC患者.
- 收集病史,临床数据,生化检查和结果.
- 针对目标基因或整个外基因的下一代测序.
主要成果:
- 在19名患者中确定了SLC22A12或SLC2A9的22个变异.
- 在SLC22A12和SLC2A9.9中发现了六种新型变异.
- 在10名患者中观察到运动诱导的急性损伤 (EIAKI),具有良好的结局.
- 在5名患者中发现了结石病,其中3名患者患有高性尿.
结论:
- 在中国RHUC患者中报告了SLC22A12和SLC2A9的六种新型变异.
- 在这个人群中,SLC2A9变异c.944G>A (p.W315X) 可能是普遍存在的.
- EIAKI是主要的临床表型,通常具有有利的结果.
- 过热症是一些RHUC患者新发现的一种关联.
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