Which are the symptoms of Congenital Nephrotic Syndrome Finnish Type?

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. This condition is typically diagnosed in infancy and can lead to severe complications if left untreated.

Symptoms:

1. Proteinuria: One of the hallmark symptoms of CNF is excessive protein loss in the urine. This can result in frothy or foamy urine and may lead to low levels of protein in the blood, causing edema (swelling) in various parts of the body, particularly the face, abdomen, and legs.

2. Hypoalbuminemia: Due to the loss of protein in the urine, individuals with CNF often have low levels of albumin in their blood. Albumin is an essential protein that helps maintain fluid balance in the body. Its deficiency can contribute to edema and other complications.

3. Hyperlipidemia: CNF can lead to elevated levels of lipids (fats) in the blood, including cholesterol and triglycerides. This abnormal lipid profile is a consequence of the disrupted kidney function and can further contribute to the development of cardiovascular problems.

4. Edema: Swelling, particularly in the face, abdomen, and extremities, is a common symptom of CNF. Edema occurs due to the leakage of fluid from blood vessels into the surrounding tissues as a result of low protein levels and impaired kidney function.

5. Infections: Individuals with CNF are more susceptible to infections, especially urinary tract infections (UTIs) and respiratory infections. The compromised immune system and impaired kidney function make it harder for the body to fight off pathogens, leading to recurrent infections.

6. Failure to thrive: Infants with CNF may experience poor growth and development, often referred to as failure to thrive. This can be attributed to the loss of nutrients through proteinuria, increased metabolic demands, and the overall impact of the disease on the body.

7. Renal failure: If left untreated, CNF can progress to end-stage renal disease (ESRD), where the kidneys lose their ability to function properly. This can result in the accumulation of waste products and fluid imbalances, necessitating dialysis or kidney transplantation.

It is important to note that the severity and progression of symptoms can vary among individuals with CNF. Early diagnosis and appropriate management, including medications to control proteinuria, dietary modifications, and supportive care, are crucial in improving outcomes and minimizing complications.