Kidney Phosphate Leak Causes Hypercalciuria and Stones
DRAFT IN PROGRESS!! No one doubts that idiopathic hypercalciuria, a treatable cause of calcium kidney stones, is familial and almost certainly genetic. Until recently the genes involved have eluded us, but we now know that inherited mutations in at least two genes can and do cause hypercalciuria, stones, and bone disease. This would be a scientific curiosity except that in both cases treatment options exist that may well be superior to what we have had before. This article concerns one of the two genes, that coding for a kidney protein that acts to conserve phosphate. Properly done kidney stone evaluation can disclose clues that prompt gene testing for one of the many mutations that can cause disease. The other gene, … Continued