The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with kidney failure in more severe cases.In humans, gene CLCN5 is located on chromosome Xp11.22, and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746-amino-acid protein. CLCN5 belongs to the family of voltage-gated chloride channel genes (CLCN1-CLCN7, CLCKa and CLCKb) that have about 12 transmembrane domains. These chloride channels have an important role in the control of membrane excitability, transepithelial transport, and possibly cell volume.The mechanisms by which CLC-5 dysfunction results in hypercalciuria and the other features of Dents disease remain to be elucidated. The identification of additional CLCN5 mutations may help in these studies. Dent disease 2
Dent disease 2 (nephrolithiasis type 2) is associated with the OCRL gene. Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense mutations in OCRL. Diagnosis
Diagnosis is based on genetic study of CNCL5 gene. Treatment
As of today, no agreed-upon treatment of Dents disease is known and no therapy has been formally accepted. Most treatment measures are supportive in nature:

Thiazide diuretics (i.e. hydrochlorothiazide) have been used with success in reducing the calcium output in urine, but they are also known to cause hypokalemia. In rats with diabetes insipidus, thiazide diuretics inhibit the NaCl cotransporter in the renal distal convoluted tubule, leading indirectly to less water and solutes being delivered to the distal tubule.
Because of its rather rare occurrence, Dents disease is often diagnosed as idiopathic hypercalciuria, i.e., excess calcium in urine with undetermined causes. References
External links
Genetic Hypercalciuria
Dent disease on Orphanet