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Steroid-resistant nephrotic syndrome type 2 is a disease that causes significant abnormalities in kidney function, often leading to kidney failure.
The age at which symptoms begin varies; in some cases, symptoms have begun before age 2 while in others, symptoms did not appear until later in childhood.
Symptoms include an excess of protein in the urine, a shortage of protein in the blood, an excess of cholesterol and triglycerides in the blood, and generalized swelling in the body tissues. The water-retention that causes swelling can also cause weight gain and high blood pressure. The disease can cause scar tissue to form in the kidney's glomeruli, which are structures responsible for filtering waste products. This is known as focal segmental glomerulosclerosis.
The disease typically leads to kidney failure, necessitating transplantation in many before the age of 20. Even after receiving a kidney transplant, symptoms of the disease can recur. It is described as "steroid-resistant" because unlike other forms of nephritic syndrome, it does not respond to steroid medications.
The disease is caused by a mutation in the gene that provides the instructions for making podocin, a protein used by the kidney's glomeruli.
The frequency of steroid-resistant nephritic syndrome type 2 is unknown. Several cases have been reported among Israeli-Arab children, however it has been found in other populations as well.
The goal of treatment is to minimize damage to the kidneys, partially by controlling blood pressure. Medication may also be required for high cholesterol. Often children with steroid-resistant nephritic syndrome require kidney transplants. They many also need medication to control for infection.
The prognosis for a person with steroid-resistant nephritic syndrome type 2 is varied, however with transplantation and careful medical management, these children can live into adulthood.
A description of nephrotic syndrome produced by the National Library of Medicine.
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