National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Dent Disease is not the name you expected.
Dent disease is a rare genetic kidney disorder characterized by spillage of small proteins in the urine, increased levels of calcium in the urine, kidney calcifications (nephrocalcinosis), recurrent episodes of kidney stones (nephrolithiasis) and chronic kidney disease. Dent disease affects males almost exclusively. Symptoms usually appear during childhood, but some individuals may be undiagnosed well into adulthood. In some cases, the disorder will progressively worsen causing severe kidney disease; in other cases affected individuals only experience mild or moderate disease into old age. Kidney disease can progressively worsen until the kidneys stop functioning (end-stage renal failure), although this usually does not occur until 30 to 50 years of age or later and will not occur at all in some individuals. Dent disease can be broken down into two subtypes. Dent disease type 1 is characterized by the previously-mentioned kidney symptoms. Dent disease type 2 is characterized by the same kidney symptoms, but individuals may have additional symptoms including mild intellectual disability, eye involvement or diminished muscle tone (hypotonia). Dent disease type 1 is caused by mutations in the CLCN5 gene. Dent disease type 2 is caused by mutations in the OCRL1 gene. Both of these genes are located on the X chromosome. These mutations may be inherited or occur randomly with no previous family history of the disorder (spontaneously). Dent disease is fully expressed only in males, although some females who carry the gene may develop mild manifestations such as spillage of small proteins in the urine, increased levels of calcium in the urine, or rarely kidney stones.
Dent disease was first reported in the medical literature in 1964 by Drs. Dent and Friedman who described two unrelated boys with rickets. The disorder was eventually fully described by doctor Oliver Wrong in 1990 who named the disease after his colleague and mentor Dr. Dent. Over the years Dent disease was referred to by other names including X-linked recessive nephrolithiasis with renal failure, X-linked recessive hypercalciuric hypophosphatemic rickets, and idiopathic low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis. Generally, Dent disease is now broken into type 1 and type 2 based upon the specific genetic mutation present. There are other individuals with Dent disease who lack mutations of these two genes (non 1/ non 2).
CLIMB (Children Living with Inherited Metabolic Diseases)
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Genetic and Rare Diseases (GARD) Information Center
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
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- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
National Kidney Foundation
- 30 East 33rd Street
- New York, NY 10016
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- Fax: (212)689-9261
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- Website: http://www.kidney.org
Oxalosis and Hyperoxaluria Foundation
- 201 East 19th Street
- Suite 12E
- New York, NY 10003
- Tel: (212)777-0470
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Rare Diseases Clinical Research Network
- University of South Florida, Pediatrics Epidemiology Center
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- Tel: (866)533-9104
- Email: RareDiseasesNetwork.org, RDCRN.org
- Website: http://rarediseasesnetwork.epi.usf.edu/registry/
Rare Kidney Stone Consortium
- Mayo Clinic
- 200 First St., SW
- Rochester, MN 55901
- Tel: (507)266-8265
- Fax: (507)255-0770
- Tel: (800)270-4637
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- Website: http://www.rarekidneystones.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 12/14/1969
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