Congenital nephrotic syndrome type 2 is an inherited condition where the kidneys are unable to filter waste products from the blood correctly, which causes the kidneys to leak excess protein into the urine.
Symptoms typically begin in early childhood and include high blood pressure, edema, increased risk for infection, and kidney failure.
This condition is caused by pathogenic (disease-causing) variants in the NPHS2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms.
Another name for this condition is steroid-resistant nephrotic syndrome.
National Organization for Rare Disorders (NORD)
Revised June 2022