Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish Nephrosis (NPHS1)

Nephrotic syndrome (NPHS1-related), also known as congenital Finnish nephrosis, is an autosomal recessive disorder caused by pathogenic variants in the gene NPHS1. Although it has been reported in ethnicities around the world, it is particularly common in the Finnish population, as well as individuals from certain Amish communities. Onset is during the prenatal period, where affected individuals lose large amounts of protein in their urine. Babies are born small and premature with large placentas. Without a kidney transplant, there will be rapid progression to end-stage kidney failure and death. Many patients are cured after kidney transplant, but some will relapse. Rarely, patients have been identified with a milder phenotype that does not require transplantation. The common Finnish variants cause the severe, infantile-onset disease.

For information about carrier frequency and residual risk, please see the residual risk table.