Congenital Nephrotic Syndrome Finnish Type (CNF) is a rare genetic disorder that affects the kidneys, specifically the glomeruli, which are responsible for filtering waste products from the blood. It is most commonly found in individuals of Finnish descent.
CNF is characterized by the excessive loss of protein in the urine, leading to low levels of protein in the blood. This results in edema (swelling) and other complications such as infections and impaired growth. Symptoms typically appear within the first few months of life.
The underlying cause of CNF is mutations in the NPHS1 gene, which plays a crucial role in the development and function of the glomeruli. These mutations disrupt the normal structure and function of the kidney, leading to the characteristic symptoms of CNF.
Unfortunately, there is currently no cure for CNF. Treatment mainly focuses on managing the symptoms and preventing complications. This may involve medications to control blood pressure and reduce protein loss, as well as dietary modifications to ensure adequate nutrition.
Early diagnosis and intervention are crucial in managing CNF and improving long-term outcomes. Genetic counseling may be recommended for affected families to understand the risk of passing on the condition to future generations.