Dent disease 2
Other Names for this Disease
- Dent disease type 2
- Nephrolithiasis type 2
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proteinuria). Other common signs of the condition include excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In addition, Dent disease type 2 can also be associated with abnormalities unrelated to kidney function. These additional symptoms include mild intellectual disability, weak muscle tone (hypotonia), and clouding of the lens (cataract). In many males with Dent disease, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD is a failure of kidney function that occurs when the kidneys are no longer able to effectively filter fluids and waste products from the body. Dent disease type 2 is inherited in an X-linked recessive manner. Approximately 15% of individuals with Dent disease type 2 have a mutation in the OCRL gene which is located on the X chromosome. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, proteinuria. Some researchers consider Dent disease type 2 to be a variant of a disorder called Lowe syndrome.Dent disease type 2 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of large amounts of protein in the urine (
Last updated: 4/20/2015
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