Dent Disease is a rare genetic disorder that primarily affects the kidneys. It is also known as X-linked recessive nephrolithiasis. This condition predominantly affects males, although there have been a few reported cases in females.
Individuals with Dent Disease may experience a range of symptoms related to kidney dysfunction. These can include excessive amounts of calcium and other substances in the urine, leading to the formation of kidney stones. Other common signs may involve proteinuria (excessive protein in the urine), low molecular weight proteinuria, and renal tubular acidosis.
The genetic cause of Dent Disease is mutations in the CLCN5 or OCRL genes, which are responsible for the normal functioning of certain proteins in the kidneys. These mutations disrupt the reabsorption of certain substances by the kidneys, leading to the characteristic symptoms of the disease.
Diagnosis of Dent Disease involves a thorough evaluation of symptoms, urine tests, blood tests, and genetic testing to identify the specific gene mutation. Treatment primarily focuses on managing the symptoms and preventing complications, such as kidney stones and renal failure. This may involve dietary modifications, medications to control calcium levels, and regular monitoring of kidney function.
While Dent Disease is a lifelong condition, with proper management and care, individuals with this disorder can lead relatively normal lives.