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Dent disease is a genetic kind of liberal renal bankruptcy. It is one reason of Fanconi syndrome, and is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic renal bankruptcy. Because of its rather rare occurrence, Dent's disease is often diagnosed as idiopathic hypercalciuria, i.e. excess calcium in urine with undetermined causes. It is due to mutations that inactivate a voltage-gated chloride channel, named CLC-5, which is expressed in the kidney and is encoded by a gene at Xp11.22. The condition is familial, affecting both males and females in equal numbers, but males are more severely affected than females. In males, it tends to present in childhood or early adult life with symptoms of renal calculi, rickets or even with renal failure.The clinical presentation is often insidious with the majority of patients remaining asymptomatic throughout childhood. Dent's disease often produces symptoms of extreme thirst combined with dehydration which leads to frequent urination, impaired urinary acidification, hypercalciuria, kidney stones. Because it is an X-linked recessive disorder, only males are affected with the disease, whereas females are asymptomatic carriers. The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with renal failure in more severe cases. The nephrolithiasis associated with Dent's disease usually takes the form of nephrocalcinosis. It is thought that the decline in renal function may be partially due to the infection and obstruction associated with nephrocalcinosis. There is no agreed-upon handling of Dent's disease and no therapy has been officially accepted. Thiazide diuretics which have been used with success in reducing the calcium production in urine, but they are too known to induce hypokalemia. For patients with osteomalacia, vitamin D or derivatives have been employed, apparently with success. In rats with diabetes insipidus thiazide diuretics inhibit the NaCl co-transporter in the renal distal convoluted tubule leading indirectly to less water and solutes being delivered to the distal tubule. A high citrate diet preserved renal function and delayed progress of renal disease. Amiloride which also increases distal tubular calcium reabsorption and has been used as a therapy for idiopathic hypercalciuria. Article Tags: Dent Disease, Dent's Disease
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