Genetic variation in claudin-2, hypercalciuria, and kidney stones

(eng) Idiopathic hypercalciuria is a major risk factor for kidney stones, which affect 5% to 10% of the population and are increasing on a global scale. Potential causes for idiopathic hypercalciuria include increased intestinal absorption, abnormal bone resorption, and reduced reabsorption of calcium by the kidney. 1 In steady state, the kidney tubules reabsorb approximately 98% of the filtrated Ca2+, via transcellular and paracellular pathways. The transcellular pathway is mediated by transporters expressed in the apical and basolateral membrane domains of cells, whereas the paracellular pathway depends on transepithelial electrochemical gradients and involves specialized proteins, the claudins. [...]