Dent disease is a chronic kidney disorder that occurs especially in males. Symptoms of this disease show in early childhood and if ignored, it can worsen over time. Symptoms include frequent presence of large amounts of proteins in the urine, excess calcium in the urine. Other signs include calcium deposition in kidneys which further lead to kidney stones which cause abdominal pain and presence of blood in the urine. Dent disease can further develop to rickets, a bone disorder. Rickets occur when the levels of Vitamin D and minerals like calcium are low in the blood. Rickets lead to softening and weakening of bones leading to bone pain and difficulty in walking.
HOW IS DENT DISEASE DIAGNOSED?
The diagnosis of Dent disease is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A biopsy of affected kidney tissue may also reveal changes indicative of Dent disease. Molecular genetic testing can detect mutations in specific genes known to cause Dent disease.
HOW IS DENT DISEASE TREATED?
There are no standardized treatment protocols or guidelines for affected individuals, due to the rarity of these diseases. The treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Paediatricians, general internists, specialists who assess and treat problems of the kidneys (nephrologists), specialists who assess and treat problems of the urinary tract (urologists), dieticians, and other healthcare professionals may need to systematically and comprehensively plan an affect individual’s treatment. Genetic counselling may be of benefit for affected individuals and their families.
DID YOU KNOW?
Amiloride can help in the reabsorption of calcium in the renal tubes.