Dent's Disease Research Paper

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Pages: 1

Dent's Disease. Dent's Disease is a chronic kidney disorder that usually occurs in males. Within the affected people, the kidney problems result from damage due to proximal tubules. The disease is usually diagnosed in childhood. Dent's Disease is broken into 2 subtypes. Type 1 there is a defect in the protein gene. In Type 2 there is an abnormality in a kidney cell function. In Type 1 there is a mutation in the CLCN5 gene. In Type 2 there is a mutation in the OCRL1 gene. Both are linked to X chromosome. The symptoms of the disorder are signs relating to weak bones, pain or blood in urine, fatigue, foamy urine, an increased amount of thirst, and a loss of appetite and weight. For testing of the disorder you would get a genetic screening test.