Denys-drash syndrome
Denys-Drash Syndrome (DDS) is a rare genetic disorder characterized by a triad of gonadal dysgenesis, nephropathy, and Wilms' tumor. It is associated with mutations in the WT1 gene, which plays a crucial role in kidney and gonad development.
Clinical Features[edit | edit source]
The clinical features of Denys-Drash Syndrome typically manifest early in life. The most common symptoms include proteinuria, edema, and hypertension, which are indicative of kidney disease. In addition, individuals with DDS often develop Wilms' tumor, a type of kidney cancer that primarily affects children. Gonadal dysgenesis, another hallmark of DDS, leads to ambiguous genitalia and intersex conditions in affected individuals.
Genetics[edit | edit source]
Denys-Drash Syndrome is caused by mutations in the WT1 gene, which is located on chromosome 11. This gene is responsible for the production of a protein that regulates the activity of other genes involved in kidney and gonad development. Mutations in the WT1 gene disrupt this regulatory function, leading to the characteristic features of DDS.
Diagnosis[edit | edit source]
The diagnosis of Denys-Drash Syndrome is based on clinical findings, genetic testing, and histopathology of kidney tissue. Genetic testing can confirm the presence of a WT1 gene mutation, while histopathology can reveal the presence of diffuse mesangial sclerosis, a type of kidney damage that is characteristic of DDS.
Treatment[edit | edit source]
The treatment of Denys-Drash Syndrome is primarily supportive and includes management of kidney disease, treatment of Wilms' tumor, and gender assignment in cases of ambiguous genitalia. Kidney transplantation may be necessary in cases of end-stage kidney disease.
Prognosis[edit | edit source]
The prognosis of Denys-Drash Syndrome is generally poor due to the high risk of kidney failure and Wilms' tumor. Early diagnosis and treatment can improve the prognosis to some extent.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
