Denys-Drash Syndrome is a rare genetic disorder characterized by a combination of kidney disease, genital abnormalities, and an increased risk of developing a type of kidney cancer called Wilms tumor. It is named after the two doctors who first identified and described the syndrome in 1967 - Jean-Pierre Denys and Robert Drash.
Individuals with Denys-Drash Syndrome typically present with early-onset renal disease, leading to progressive renal failure. This includes abnormalities in the structure and function of the kidneys, such as glomerular sclerosis. Additionally, these individuals may experience abnormal genital development, such as ambiguous or underdeveloped genitalia. In males, this can manifest as severe abnormalities of the testes, while in females it may involve malformed or absent reproductive organs.
Furthermore, individuals with Denys-Drash Syndrome have an increased risk of developing Wilms tumor, a type of kidney cancer that primarily affects children. This tumor often presents in the first few years of life.
The underlying cause of Denys-Drash Syndrome is mutations in the Wilms tumor suppressor gene (WT1) located on chromosome 11. These genetic mutations disrupt the development and functioning of the kidneys and other related structures, leading to the characteristic features of the syndrome.
Due to the serious nature of the associated kidney disease and the risk of developing cancer, early diagnosis and management of Denys-Drash Syndrome are crucial. Treatment may involve medications and surgical interventions to manage kidney function and address any genital abnormalities. Regular monitoring for the potential development of Wilms tumor is also necessary.
