Dent's disease

Dent's disease is a rare X-linked recessive kidney disorder that damages the proximal renal tubules, the segment of the kidney responsible for reabsorbing filtered substances back into the blood. Around 60 percent of cases trace to mutations in the CLCN5 gene, which encodes a kidney-specific chloride channel, while about 15 percent involve the OCRL gene. Affected individuals, almost always male, typically develop excessive thirst and frequent urination, kidney stones, abnormally high urinary calcium, and loss of amino acids, glucose and phosphate into the urine, sometimes with rickets or other bone disease. Female carriers are usually unaffected. In a study of 25 patients roughly 60 percent of affected males progressed to end-stage kidney disease by age 47, making long-term kidney monitoring a central part of managing the condition.