Dent Disease
Dent disease is a rare genetic disorder that affects the kidneys. More common in males than females, symptoms of Dent disease may develop in childhood and progressively worsen. Although they rarely develop symptoms of the condition, women can be carriers of Dent disease and pass it on to their children. Kidney stones and protein or blood in the urine are common childhood indicators of this condition. Dent disease is commonly underdiagnosed, because the symptoms are similar to other other kidney disorders. Dent disease may lead to progressive kidney problems and renal disease in early to mid-adulthood.
Causes of Dent Disease
Dent disease is is caused by an abnormal gene mutation. This gene mutation occurs most often in males and is usually inherited, but in some cases it can occur spontaneously. Occasionally females will inherit the abnormal gene, although they are are extremely unlikely to develop the illness. However, most females with the abnormal gene are considered carriers, and can pass it on to their sons.
Symptoms of Dent Disease
Individuals with Dent disease have an excessive amount of protein in their urine. Additional symptoms may include calcium deposits in the kidneys as well as:
- Kidney stones
- Calcium in the urine
- Blood in the urine (hematuria)
- Abdominal pain
Excessive amounts of calcium in the urine can cause frequent urination and increased thirst. People with Dent disease may also develop Rickets, a bone disorder caused by low levels of calcium and other minerals in the blood. Rickets causes weakening and softening of the bones which can lead to bone pain and difficulty walking. On rare occasions, individuals may also experience mild intellectual disabilities, eye problems, weak muscle tone and impaired growth. These symptoms may be an indication that the individual has a condition known as Dent disease type 2.
Diagnosis of Dent Disease
In some cases, Dent disease may be discovered accidentally when the results of a routine urine test show protein in the urine or an ultrasound reveals calcium deposits in the kidneys. To validate a diagnosis of Dent disease and rule out any other conditions, the physician performs a physical examination, administers blood tests, and reviews all symptoms. Genetic testing can confirm the diagnosis of Dent disease.
Treatment of Dent Disease
While there is no specific treatment for the disease itself, treatment focuses on symptom relief and improving the quality of the patient's life. Medication may be may be prescribed to help reduce the loss of calcium in the urine. Rickets can be treated with dietary supplements and vitamin D. Kidney stones may be treated with medication, or in severe cases, they may be surgically removed.
Complications of Dent Disease
In severe cases, kidney stones may block the urinary system and kidney function may deteriorate over time. If other treatment is unsuccessful, dialysis or a kidney transplant may be necessary.