Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities to Dent disease. However, patients do not suffer from rickets or renal failure. Mutations of a renal chloride channel gene, CLCN5, have been reported.
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
