Dent disease

Dent disease is characterized by a low molecular weight proteinuria, hypercalciuria, proximal tubule dysfunction, and a progressive renal failure. 

Concomitant complications of the syndrome include rickets, osteomalbia, aminoaciduria, phosphaturia, glycosuria, uricosuria, and calciuria. 

The disease manifests already in childhood and only in occurs in males.

There are two forms of Dent disease. In Type 1, mostly renal problems occur.

Type 2 is characterized by mild intellectual retardation, hypotonia and a sub-clinical cataract.

The cause of the disease are mutations in the CLCN5 gene at the locus Xp11.22 in the case of a type 1, and in the OCRL1 gene at the locus Xq25 in type 2.