The Genetics of Kidney Stones

Nephrolithiasis is a common condition. The most common types of kidney stones contain calcium (most often calcium oxalate or calcium phosphate), representing 90 % of all stones. The etiology of calcium nephrolithiasis is multifactorial, involving nutritional, environmental, and genetic determinants. Genetics play a role in defining the metabolic “milieu” from which kidney stones may form. Monogenic stone-forming conditions are rare but very interesting as “models” to highlight the genetic component of idiopathic nephrolithiasis. Among the others, a tendency to form stones may derive from anomalies of the calcium-sensing receptor, adenylyl cyclase, vitamin D receptor, claudin, chloride channels, phosphatidylinositol 4,5-bisphosphate 5-phosphatase, sodium/phosphate transporter, carriers involved in the pathogenesis of distal renal tubular acidosis, genes involved in renal morphogenesis, and medullary sponge kidney.