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.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
Diseases of the urinary system
GB90 Certain specified disorders of kidney or ureter
H02148 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
