This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria (protein in the urine). Other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney stones. Less common features include rickets and mildy short stature. Progressive kidney problems often lead to kidney failure by early to mid-adulthood.
There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are inherited in an X-linked recessive manner.
Treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life.
For more information, visit GARD.