NPHS2-related nephrotic syndrome seriously affects how the kidneys work, sometimes leading to kidney failure.
This type of nephrotic syndrome that doesn’t get better with steroid treatment, known as steroid-resistant nephrotic syndrome (SRNS). Signs usually show up between 4 and 12 months of age, but in some cases, they might appear later in childhood. People with this condition have too much protein in their urine (called proteinuria), low levels of protein in their blood, kidney failure, and swelling all over their body (edema). This swelling can lead to weight gain and high blood pressure. Those with nephrotic syndrome can easily get sick because they can’t keep enough antibodies in their body. Individuals are also more likely to have harmful blood clots. Kidney failure usually happens before the age of 20, and getting a new kidney through a transplant can help them live a more normal life. The main goal of treatment is to protect the kidneys from damage. Healthcare providers might give medication to control blood pressure and high cholesterol. Kids with nephrotic syndrome might need antibiotics to fight infection. For those with steroid-resistant nephrotic syndrome, doctors might suggest protein infusions to replace what’s lost in the urine. Diuretic drugs can help get rid of extra water and reduce swelling, and blood thinners might be needed to prevent blood clots. Eventually, kidney failure might happen, and a kidney transplant becomes necessary, although symptoms could come back even after the transplant.
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.
Another name for this condition is familial nephrotic syndrome.
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Revised November 2023
