Denys-Drash syndrome
Denys-Drash Syndrome
Denys-Drash syndrome (pronunciation: den-ees drash sin-drome) is a rare genetic disorder characterized by kidney disease, abnormalities of the genitalia, and the development of a specific form of cancer known as Wilms' tumor.
Etymology
The syndrome is named after the two doctors, Dr. Claude Denys and Dr. Peter Drash, who first described the condition in the medical literature in 1967.
Symptoms
The symptoms of Denys-Drash syndrome can vary but often include nephrotic syndrome, which is characterized by proteinuria, hypoalbuminemia, and edema. Other symptoms can include ambiguous genitalia or intersex conditions, and an increased risk of developing Wilms' tumor.
Causes
Denys-Drash syndrome 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 genitals.
Diagnosis
Diagnosis of Denys-Drash syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests, including genetic testing to detect mutations in the WT1 gene.
Treatment
Treatment of Denys-Drash syndrome is directed toward the specific symptoms that are apparent in each individual. This may include medications to manage nephrotic syndrome, surgery to remove Wilms' tumor, and potentially, kidney transplantation.
Related Terms
See Also
External links
- Medical encyclopedia article on Denys-Drash syndrome
- Wikipedia's article - Denys-Drash syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski