Jahrreiss Victoria, Özsoy Mehmet, Seitz Christian, Somani Bhaskar
Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
EAU Section on Urolithiasis (EULIS).
Curr Opin Urol. 2023 Mar 1;33(2):73-76. doi: 10.1097/MOU.0000000000001064. Epub 2022 Dec 23.
To summarize the latest findings and developments in genomics for kidney stone disease (KSD) that help to understand hereditary pathomechanisms, identify high risk stone formers, provide early treatment and prevent recurrent kidney stone formation.
Several gene loci associated to KSD have presently been discovered in large Genome-wide association studies. Monogenic causes are rare, but are thought to have higher penetrance, while polygenic causes are more frequent with less penetrance. Although there is a great effort identifying genetic causes of KSD, targeted therapies are scarce.
There have been great advancements in genetic research in identifying genetic variants associated with KSD. Identifying these variants and understanding the underlying pathophysiology will not only provide individual risk assessment but open the way for new treatment targets and preventive care strategies.
总结肾结石疾病（KSD）基因组学的最新发现和进展，这些发现有助于理解遗传发病机制、识别高风险结石形成者、提供早期治疗并预防复发性肾结石形成。
目前在大规模全基因组关联研究中已发现多个与KSD相关的基因位点。单基因病因罕见，但被认为具有较高的外显率，而多基因病因更常见但外显率较低。尽管在确定KSD的遗传病因方面付出了巨大努力，但靶向治疗却很少。
在识别与KSD相关的基因变异的基因研究方面取得了巨大进展。识别这些变异并理解潜在的病理生理学不仅将提供个体风险评估，还将为新的治疗靶点和预防保健策略开辟道路。
