Dent Disease, also known as Dent's syndrome, is a rare genetic disorder that primarily affects the kidneys. It is characterized by the improper reabsorption of certain substances in the kidneys, leading to various symptoms and complications. The condition primarily affects males, although there have been a few reported cases in females as well.
One of the key symptoms of Dent Disease is the presence of proteinuria. Proteinuria refers to the presence of excess protein in the urine. Normally, the kidneys filter waste products and excess substances from the blood, while retaining essential proteins. However, in Dent Disease, the kidneys are unable to properly reabsorb proteins, resulting in their excretion in the urine. This can lead to frothy or foamy urine.
Another prominent symptom is the presence of excess calcium in the urine, known as hypercalciuria. The kidneys play a crucial role in maintaining the balance of calcium in the body. In Dent Disease, the impaired reabsorption of calcium by the kidneys leads to its excessive excretion in the urine. This can increase the risk of kidney stones and contribute to the development of nephrocalcinosis, a condition characterized by the deposition of calcium in the kidney tissue.
Low molecular weight proteinuria is also a common feature of Dent Disease. This refers to the increased excretion of certain small proteins in the urine, such as retinol-binding protein and alpha-1 microglobulin. The presence of these proteins in the urine can be detected through laboratory tests.
Individuals with Dent Disease may experience progressive kidney dysfunction. The impaired functioning of the kidneys can lead to a decline in their ability to filter waste products and maintain fluid and electrolyte balance. This can result in symptoms such as fatigue, weakness, frequent urination, and increased thirst.
Some affected individuals may also develop rickets or osteomalacia. Rickets is a condition characterized by weak and brittle bones, typically seen in children. Osteomalacia, on the other hand, refers to the softening of bones in adults. These bone abnormalities can occur due to the impaired regulation of vitamin D and calcium by the kidneys.
In some cases, Dent Disease can lead to high blood pressure (hypertension). The exact mechanisms behind this association are not fully understood, but it is believed to be related to the abnormal handling of calcium and other substances by the kidneys.
It is important to note that the severity and specific symptoms of Dent Disease can vary among affected individuals. Some individuals may have mild symptoms and experience minimal kidney dysfunction, while others may develop more severe complications.
If Dent Disease is suspected, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management. Genetic testing and specialized kidney function tests can help confirm the presence of the condition and guide treatment decisions.