title: Update on the genetics of nephrolithiasis.
abstract: Genetic studies of calcium kidney stones evidenced the possible involvement of calcium-sensing receptor gene, vitamin D receptor gene and bicarbonate-sensitive adenylate cyclase gene, but it is uncertain which specific polymorphisms could be responsible. Thus, further studies are required to better assess the involvement of these or other genes and the interactions between different genes and between genes and environment. 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, osteopontin and Tamm-Horsfall protein among the possible determinants. Further steps in the knowledge of calcium stone causes may be done using the instruments that the modern biotechnology and bioinformatics have made available to the researchers.
authors.affiliation: Nephrology and Dialysis Unit, San Raffaele Scientific Institute, Vita Salute University, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vezzoli
authors.forename: Teresa
authors.initials: T
authors.lastname: Arcidiacono
authors.forename: Vera
authors.initials: V
authors.lastname: Paloschi
authors.forename: Annalisa
authors.initials: A
authors.lastname: Terranegra
authors.forename: Rita
authors.initials: R
authors.lastname: Biasion
authors.forename: Laura
authors.initials: L
authors.lastname: Soldati