Dent disease 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
- Genetics Home Reference (GHR) contains information on Dent disease 2. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dent disease 2. Click on the link to view a sample search on this topic.