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Kidney Stones

Update in Diagnosis and Management

Genetic Hypercalciuria

Slide 13

February 2010

Idiopathic hypercalciuria is clearly genetic. It tends to run in families, affecting 50% of first degree relatives. Many of these patients behave as if they have vitamin D excess, although vitamin D levels are normal. Although these patients have a genetic cause for hypercalciuria, tubular calcium handling is further influenced by diet including sodium, protein, and sucrose. Low bone mineral density is also often present in this group of individuals, perhaps due to systemic defects in calcium handling. Although a few rare monogenic causes have been identified, as listed here, the causative gene or genes remain to be identified for the majority of affected individuals.

Genetic Hypercalciuria


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