NPHS-1 related nephrotic syndrome is a condition where the kidneys release proteins into the urine because of a problem with a protein called nephrin.
Signs of the disease show up shortly after birth, usually within the first few days or weeks but always before three months of age. Sadly, many cases are fatal by the age of five, and a lot don’t make it past the first year. If a child survives to around two or three years old, a kidney transplant might help them live a more normal life. Kids with this syndrome are often born too early and with low birth weight. The lack of protein in their blood, along with kidney issues, leads to swelling in the whole body. They may not eat well, urinate less, and struggle to grow properly. Their blood fat levels might also be high. People with this kind of nephrotic syndrome lose important antibodies that fight infection because of the protein going into their urine. This makes them more likely to get sick. They are also at risk for harmful blood clots. Since this syndrome can be fatal early on, quick and careful treatment is crucial for the child to make it to the age of two or three, when a kidney transplant becomes an option. This is the only chance for a long life. The new kidney isn’t affected by the disease, but in about 20% of transplants, the body starts making antibodies against the nephrin protein, and high protein levels in the blood can come back.
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.
Other names for this condition are congenital Finnish nephrosis and familial nephrotic syndrome.
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Revised November 2023
