Congenital nephrotic syndrome type 1 is an inherited condition that causes the kidneys to leak excess protein into the urine.
Symptoms include low birth weight, poor appetite, increased risk for infection, blood clotting, and kidney failure. Individuals with the condition can experience symptoms within the first three months of life. The condition can be fatal in early childhood.
This condition is caused by pathogenic (disease-causing) variants in the NPHS1 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.
Other names for this condition include congenital Finnish nephrosis and congenital nephrotic syndrome- Finnish type.
Resources:
National Organization for Rare Disorders (NORD)
Genetic and Rare Diseases Information (GARD)
Revised June 2022
