Dent disease 1
Other Names for this Disease
- Nephrolithiasis, hypercalciuria x-linked
- Urolithiasis, hypercalciuric x-linked
- Nephrolithiasis 2
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proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcinosis), and kidney stones (nephrolithiasis). In many males with Dent disease, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD ia a failure of kidney function that occurs when the kidneys are no longer able to effectively filter fluids and waste products from the body. Disease severity can vary even among members of the same family. Dent disease type 1 is inherited in an X-linked recessive manner. Approximately 60% of individuals with Dent disease 1 have a mutation in the CLCN5 gene which is located on the X chromosome. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, proteinuria.Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (
Last updated: 4/17/2015
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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