Denys-drash syndrome
Denys-Drash Syndrome
Denys-Drash Syndrome (pronunciation: den-ees drash sin-drome) is a rare genetic disorder that primarily affects the kidneys and the genitalia. The syndrome is named after the physicians who first described it, Dr. Annick Denys and Dr. Paul Drash.
Etymology
The term "Denys-Drash Syndrome" is derived from the names of the two physicians, Dr. Annick Denys and Dr. Paul Drash, who first described the condition in the medical literature in 1967.
Definition
Denys-Drash Syndrome is characterized by a triad of nephropathy, Wilms' tumor, and intersex conditions. It is caused by mutations in the WT1 gene, which provides instructions for making a protein that is necessary for the development of the kidneys and genitalia.
Symptoms
The symptoms of Denys-Drash Syndrome typically appear in early infancy and may include proteinuria, edema, and hypertension. Affected individuals also have a high risk of developing Wilms' tumor, a type of kidney cancer that primarily affects children.
Diagnosis
Diagnosis of Denys-Drash Syndrome is based on clinical findings, genetic testing for mutations in the WT1 gene, and sometimes kidney biopsy.
Treatment
Treatment for Denys-Drash Syndrome is supportive and depends on the specific symptoms present in each individual. It may include medications to manage proteinuria and hypertension, surgery to remove Wilms' tumor, and hormone therapy for intersex conditions.
Prognosis
The prognosis for individuals with 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.
See Also
External links
- Medical encyclopedia article on Denys-drash syndrome
- Wikipedia's article - Denys-drash syndrome
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