Paloschi V, Arcidiacono T, Stella P, Rainone F, Terranegra A, Dogliotti E, Soldati L, Vezzoli G
Unita' di Nefrologia e Dialisi, Istituto Scientifico San Raffaele, Universita' Vita Salute, Milano, Italy.
G Ital Nefrol. 2009 Jan-Feb;26(1):64-72.
Genetic studies of calcium kidney stones have so far assessed single candidate genes by testing linkage disequilibrium or association between a locus and stone disease. They showed the possible involvement of the calciumsensing receptor gene, vitamin D receptor gene, and bicarbonate-sensitive adenylate cyclase gene. In addition to research in humans, the study of different strains of knock-out mice let us include the gene of phosphate reabsorption carrier NPT2, caveolin-1, protein NHERF-1 modulating calcium and urate reabsorption, osteopontin and Tamm-Horsfall protein among the possible determinants. However, the interactions between genes and also between environmental factors and genes are generally considered fundamental in calcium stone formation. Thus, the genetic studies carried out to date have not led to a significant growth of the knowledge about the causes of calcium kidney stones, even though they have allowed us to assess the size of the problem and define criteria to address it. Further knowledge of the causes of calcium stones may be obtained using the instruments that modern biotechnology and bioinformatics have made available to researchers.
迄今为止，对钙肾结石的基因研究通过测试一个基因座与结石病之间的连锁不平衡或关联性来评估单个候选基因。这些研究表明钙敏感受体基因、维生素D受体基因和碳酸氢盐敏感腺苷酸环化酶基因可能参与其中。除了对人类的研究外，对不同品系基因敲除小鼠的研究使我们将可能的决定因素纳入了磷酸盐重吸收载体NPT2、小窝蛋白-1、调节钙和尿酸重吸收的蛋白质NHERF-1、骨桥蛋白和Tamm-Horsfall蛋白的基因。然而，基因之间以及环境因素与基因之间的相互作用通常被认为是钙结石形成的根本因素。因此，尽管迄今为止进行的基因研究使我们能够评估问题的规模并确定解决问题的标准，但尚未显著增加我们对钙肾结石病因的了解。利用现代生物技术和生物信息学为研究人员提供的工具，可能会进一步了解钙结石的病因。
