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Dent disease
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Dados do National Institutes of Health
| Dent disease : Dent disease is a chronic kidney disorder that occurs almost exclusively in males. The kidney problems seen in affected individuals are a result of damage to structures called proximal tubules. These structures help reabsorb water, protein, and other nutrients into the bloodstream or release them into the urine. The signs and symptoms of Dent disease tend to appear in childhood and worsen over time. However, the features and the severity of Dent disease vary greatly among affected individuals. The most frequent sign of Dent disease is the loss of small proteins in the urine (also called low-molecular-weight or LMW proteinuria). Too much calcium in the urine (hypercalciuria) is another common sign of Dent disease. LMW proteinuria and hypercalciuria may be the only signs of Dent disease in affected children. Additional signs and symptoms of Dent disease can include calcium deposits in the kidneys (nephrocalcinosis) and kidney stones (nephrolithiasis). Kidney stones can cause abdominal pain and blood in the urine (hematuria). Thirty to 80 percent of people with Dent disease develop kidney failure in early to mid-adulthood. Kidney failure can be life-threatening and occurs when the kidneys are no longer able to effectively filter fluids and waste products from the body. In some people with Dent disease, low levels of vitamin D and other factors can cause bones to soften and weaken. This can result in a condition called rickets or a similar condition called osteomalacia. These conditions can cause bone pain and make bones more likely to break. Rickets can also be associated with bowed legs, difficulty walking, and short stature. Researchers have described two forms of Dent disease that are caused by changes in different genes: Dent disease 1 and Dent disease 2. Both forms are characterized by the features described above, but Dent disease 2 can also be associated with mild intellectual disabilities and developmental delays. People with Dent disease 2 may also have a clouding of the lens of the eye (cataract) that does not typically cause severe visual impairment. Studies have also suggested that people with Dent disease 2 may be more likely to develop a painful skin condition called hidradenitis suppurativa. | |
| Review Date: 10/04/2026 | Updated By: |