The impairment of Na transport in the distal convoluted tubule induces natriuresis and water loss, while increasing the reabsorption of calcium in this segment in a manner unrelated to sodium transport. Amiloride also increases distal tubular calcium reabsorption and has been used as a therapy for idiopathic hypercalciuria. A combination of 25 mg of chlorthalidone plus 5 mg of amiloride daily led to a substantial reduction in urine calcium in Dents patients, but urine pH was "significantly higher in patients with Dent’s disease than in those with idiopathic hypercalciuria (P < 0.03), and supersaturation for uric acid was consequently lower (P < 0.03)." For patients with osteomalacia, vitamin D or derivatives have been employed, apparently with success. Some lab tests on mice with CLC-5-related tubular damage showed a high-citrate diet preserved kidney function and delayed progress of kidney disease. History
Dents disease was first described by Charles Enrique Dent and M. Friedman in 1964, when they reported two unrelated British boys with rickets associated with renal tubular damage characterized by hypercalciuria, hyperphosphaturia, proteinuria, and aminoaciduria. This set of symptoms was not given a name until 30 years later, when the nephrologist Oliver Wrong more fully described the disease. Wrong had studied with Dent and chose to name the disease after his mentor. Dents disease is a genetic disorder caused by mutations in the gene CLCN5, which encodes a kidney-specific voltage-gated chloride channel, a 746-amino-acid protein (CLC-5) with 12 to 13 transmembrane domains. It manifests itself through low-molecular-weight proteinuria, hypercalciuria, aminoaciduria and hypophosphataemia.
Currently, BHC is diagnosed through the identification of the phenotypic symptoms with a genetic test to confirm the mutation in the TITF-1 gene. Management
There are no cures for benign hereditary chorea, but there are several medications that have been shown to treat the symptoms of the disorder. Levodopa has been shown to improve the effects of chorea on a patients gait within 6 weeks of starting treatments. However, this medication did have the side effect of "dose-dependent dyskinesia." Methylphenidate has also been used to improve chorea symptoms. Steroids have been used to treat BHC, but due to the presence of dystonia, it is questionable whether these patients actually had BHC. Epidemiology
In 1978, BHC was reported to have a frequency of 1:500,000 within a Welsh population, but due to how some symptoms are hard to distinguish, it was concluded that the number is underrespresentative of actual clinical cases. Results for correlation between sex and distribution of the disorder are inconclusive. See also
Chorea
Huntingtons disease

References


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