Franklin Disease, also known as congenital nephrotic syndrome of the Finnish type (CNF), is a rare and severe genetic disorder that affects the kidneys. It is named after the Finnish physician Dr. Yrjö Kristian Franklin, who first described the disease in the 1950s.
This inherited condition predominantly affects newborns and infants, causing dysfunction in the glomerular filtration barrier of the kidneys. The glomerular filtration barrier normally filters waste products from the blood while retaining essential proteins. However, in individuals with Franklin Disease, the filtration barrier is compromised, resulting in excessive loss of proteins, particularly albumin, through the urine.
The characteristic clinical feature of Franklin Disease is significant proteinuria, or the presence of high levels of protein in the urine. This loss of proteins has numerous consequences on overall health, including edema (swelling) due to fluid retention, hypoalbuminemia (low levels of albumin in the blood), and hyperlipidemia (high levels of fats in the blood).
If left untreated, Franklin Disease can lead to severe complications such as malnutrition, growth failure, infections, and eventually end-stage kidney disease. Treatment options for this disease primarily involve medications, such as corticosteroids, angiotensin-converting enzyme (ACE) inhibitors, and diuretics, which aim to control proteinuria, reduce fluid retention, and maintain normal kidney function.
Due to its rare nature and potential complications, individuals diagnosed with Franklin Disease often require close monitoring and specialized care from a multidisciplinary team, including nephrologists, pediatricians, and genetic counselors. Genetic testing is essential to confirm the diagnosis and identify specific mutations in the NPHS1 gene, which is responsible for this disorder.
