What Is Nephrotic Syndrome, NPHS2-Related?

Nephrotic syndrome, NPHS2-related is an inherited condition that causes issues with kidney function often leading to kidney failure. Mutations in the NPHS2 gene cause a form of nephrotic syndrome that is unresponsive to steroid treatment known as steroid-resistant nephrotic syndrome (SRNS). Symptoms of the condition typically begin between 4 and 12 months of age, but in some cases occur later in childhood.

Symptoms of the condition include an excess of protein in the urine (proteinuria), low levels of protein in the blood, kidney failure, and swelling of the body (edema). The swelling can also cause weight gain and high blood pressure. Individuals with nephrotic syndrome are prone to infection due to their inability to retain sufficient amounts of serum antibodies. They are also prone to develop harmful blood clots. Kidney failure typically occurs before the age of 20, and kidney transplantation may allow for a more normal lifespan.

How Common Is Nephrotic Syndrome, NPHS2-Related?

The incidence of all childhood nephrotic syndrome is 2 to 16 per 100,000 individuals worldwide of which 10-20% have SRNS. Approximately 10% of individuals with SRNS carry mutations in the NPHS2 gene.

How Is Nephrotic Syndrome, NPHS2-Related Treated?

The goal of treatment is to minimize damage to the kidneys. Medication to control blood pressure and high cholesterol may be prescribed. Often children with nephrotic syndrome with protein loss require antibiotics to control for infection. A physician may recommend infusions of protein for children with SRNS to help replace what is lost in the urine. Diuretic drugs may help eliminate excess water and thus reduce swelling while blood thinners may be required to aid in blood clotting. Typically, kidney failure will occur, and a kidney transplant will be required though symptoms of the disease can recur after transplant.

What Is the Prognosis for Nephrotic Syndrome, NPHS2-Related?

The prognosis for an individual with nephrotic syndrome, NPHS2-related varies, but with transplantation and careful medical management, affected children can live into adulthood.


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