丹特病:一种导致单一性结石和结石的原因
Lucía Diéguez1, Melissa Pilco2, Sofía Butori1
1Department of Urology, Fundación Puigvert, 08025 Barcelona, Spain.
Journal of personalized medicine
|June 27, 2024
概括
丹特病是一种遗传性脏疾病,经常导致结石,需要终身脏治疗. 早期遗传诊断对于量身定制的治疗和管理这种疾病的遗传咨询至关重要.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 医学遗传学 医学遗传学
背景情况:
- 结石影响高达10%的成年人,其中很小一部分是由单一的原因引起的,如丹特病.
- 丹特病是一种X链综合征,其特征是蛋白尿,高尿,结石和结石,经常与CLCN5基因的突变有关.
研究的目的:
- 审查自然病史,临床特征和患有丹特病的患者结石的治疗方法.
- 为了评估基因确诊Dent病患者单中心病例系列的结果.
主要方法:
- 进行了一次文献综述.
- 评估了来自西班牙单一中心的6名遗传确诊Dent病患者的病例系列.
- 审查的数据包括天然石的演变,临床影响,实验室结果,放射学发现和治疗策略.
主要成果:
- 在病例系列中,CLCN5突变是最常见的遗传原因 (66%).
- 所有患者都表现出蛋白尿和白蛋白尿;高尿和酸盐异常较少发生.
- 大多数患者 (60%) 患有结石,需要进行体外冲击波石解术或手术等干预措施.
- 两名患者需要或正在等待移植.
结论:
- 丹特病经常导致结石病,需要持续的科管理.
- 早期对Dent病的遗传诊断可以防止不必要的治疗,并促进遗传咨询.
- 虽然管理往往反映非单一性结石,但有针对性的治疗可能有利于特定的单一性结石形式.
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