Monogenic forms of nephrolithiasis are infrequent, but they account for a significant number of cases among patients who develop chronic/terminal renal disease. Many genetic defects that produce these pathologies are found genes involved in vitamin D metabolism, tubular reabsorption of calcium, glyoxylate, and purines. They are generally associated with early onset and chronic progressive renal disease; therefore, genetic diagnosis is important for establishing prognosis and possible personalized treatment options. It can sometimes be associated with abnormal deposition of calcium phosphate (nephrocalcinosis) or calcium oxalate (oxalosis) in the renal parenchyma and increased levels of urinary calcium (hypercalciuria).
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