Dent Disease

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Dent Disease is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary

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.

Introduction

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).

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
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
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Website: http://www.kidney.org

Oxalosis and Hyperoxaluria Foundation

201 East 19th Street
Suite 12E
New York, NY 10003
USA
Tel: (212)777-0470
Fax: (212)777-0471
Tel: (800)643-8699
Email: execdirector@ohf.org
Website: http://www.ohf.org/

Rare Diseases Clinical Research Network

University of South Florida, Pediatrics Epidemiology Center
3650 Spectrum Boulevard, Suite 100
Tampa, FL 33612
Tel: (813)396-9501
Fax: (813)910-5997
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
Email: rarekidneystones@mayo.edu
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".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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Last Updated:  12/14/1969
Copyright  2014 National Organization for Rare Disorders, Inc.