Frasier syndrome
Frasier Syndrome
Frasier Syndrome (pronounced fray-zher sin-drome) is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the genitalia.
Etymology
Frasier Syndrome is named after Dr. Donna Frasier, the pediatric nephrologist who first described the condition in 1964.
Definition
Frasier Syndrome is a condition that affects the kidneys and the reproductive system. It is characterized by glomerulosclerosis, a type of kidney disease that affects the glomeruli, and gonadal dysgenesis, a condition that affects the development of the sex organs.
Symptoms
The symptoms of Frasier Syndrome include proteinuria, a condition characterized by excessive amounts of protein in the urine, and chronic kidney disease, which can lead to kidney failure. Individuals with Frasier Syndrome also typically have abnormal development of the sex organs, which can lead to infertility and other reproductive issues.
Causes
Frasier Syndrome is caused by mutations in the WT1 gene, which is involved in the development of the kidneys and the reproductive system. The condition is inherited in an autosomal dominant manner, meaning that an individual only needs to inherit one copy of the mutated gene from one parent to develop the condition.
Diagnosis
Diagnosis of Frasier Syndrome is based on the presence of characteristic symptoms, a family history of the condition, and genetic testing to identify mutations in the WT1 gene.
Treatment
Treatment for Frasier Syndrome is focused on managing the symptoms and preventing complications. This may include medications to control proteinuria and slow the progression of kidney disease, and hormone therapy to manage issues related to abnormal development of the sex organs.
Related Terms
External links
- Medical encyclopedia article on Frasier syndrome
- Wikipedia's article - Frasier syndrome
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