Most patients with idiopathic hypercalciuria and calcium nephrolithiasis have a family history of the disease. Idiopathic hypercalciuria is a metabolic abnormality with various causes and developmental pathways. The systematic review describes specific mutations associated with idiopathic hypercalciuria and nephrolithiasis. Detection of these mutations may provide a better understanding of the pathogenesis of this heterogeneous disease and personalize patient management depending on the detected polymorphisms. A promising treatment option for a mutation in the vitamin D receptor gene is thiazide diuretics in combination with bisphosphonates. Among bisphosphonates, the drug of choice which has been most strongly supported by research evidence is alendronate.
Keywords: bisphosphonates; idiopathic hypercalciuria; nephrolithiasis; polymorphism of the vitamin D receptor gene.