Frasier Syndrome: A Rare Genetic Disorder
Frasier syndrome is a rare genetic condition that affects the development of the kidneys and reproductive organs. It is caused by mutations in the WT1 gene, which plays an important role in organ formation and function during fetal development.
Individuals with Frasier syndrome often develop progressive kidney disease, such as focal segmental glomerulosclerosis (FSGS), which can lead to kidney failure. The condition also affects sexual development, typically resulting in gonadal dysgenesis and an increased risk of gonadal tumors.
Key features of Frasier syndrome include:
Kidney problems leading to protein loss and reduced function
Abnormal development of reproductive organs
Genetic mutations involving the WT1 gene
Possible need for medical monitoring and surgical management
Diagnosis is usually confirmed through genetic testing and clinical evaluation. Management focuses on treating kidney complications, monitoring tumor risk, and supporting hormone and reproductive health.