Dent Disease Foundation

FEDERAL NUMBER 46-2912070

What is it?

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.

 

Our Mission

Raising funds to support research into the causes of the disease so we may halt its progression and find a cure.  ​ Educating patients, the medical community and the public; and to promote communication among patients, their families and the medical community.

Ongoing Research

The Mayo Clinic has an ongoing study for Dent’s Disease. Funding is provided by the NIH. They have a Patient Survey that we encourage everyone to take!

Rare kidney stone consortium

Here is the link to Rare Kidney Stone Consortium for Dent Disease study.

Dent Patient Meeting Sign Up

October 4th and 5th ,2019

Mayo Clinic, Rochester, MN

 

© 2019 Dent Disease Foundation    |      Contact: Catherine Forrest caforrest@dentdisease.com