Kidney Stone Disease: An Update on Current Concepts

Table 3

Gene involved in hypercalciuria, gene products, and renal phenotype [93].

Gene	Gene product/function	Renal phenotype
VDR	Vitamin D receptor	Decreased calcium reabsorption leading to hypercalciuria and nephrocalcinosis
CLCNS	Cl/H antiporter	Inactivating mutation causes hypercalciuria, hyperphosphaturia, low molecular weight proteinuria, nephrocalcinosis, stone
CASR	Calcium sensing receptor	Gain of function mutation produces hypercalciuria, nephrocalcinosis, stone
CLDN16	Tight junction protein	Hypercalciuria, magnesium wasting, nephrocalcinosis, stone
NPT2a/c	Sodium phosphate cotransporter	Hypercalciuria, hypophosphatemia, phosphate wasting, nephrocalcinosis, stone
TRPV5	Calcium selective transient receptor potential channel	Hypercalciuria, hyperphosphaturia
sAC	Soluble adenylate cyclase/bicarbonate exchanger/	Hypercalciuria, stones
KLOTHO	Aging suppression protein/regulator of calcium homeostasis	Hypercalciuria