Dent's disease

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A rare X-linked (see sex-linked) recessive inherited condition usually presenting in childhood or early adult life with polyuria, microscopic haematuria, renal stone disease, or rickets. The majority of patients have a mutation of the gene encoding chloride channel 5 (CLCN5); others have a defect of the OCRL1 gene, normally associated with Lowe’s syndrome, but do not present with the cataracts, mental retardation, and tubular acidosis associated with this condition. In still others the genetic defect has yet to be defined but is not associated with either CLCN5 or OCRL1. Patients with Dent’s disease have evidence of proximal tubular dysfunction. C. E. Dent (1911–76), British physician

Subjects: Medicine and Health.

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