Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis

Definition:

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.

References:

[1]. S E Lloyd, et al. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest. 1997 Mar 1;99(5):967-74. [Content Brief]

[2]. S J Scheinman, et al. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int. 1998 Jan;53(1):3-17. [Content Brief]

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