Nephrotic syndrome type 1


What is nephrotic syndrome type I?

Nephrotic syndrome type I is a rare inherited kidney disorder. It is also called congenital nephrotic syndrome of Finnish type because it has occurred most frequently in Finland. One of the main jobs of the kidneys is to filter excess water and waste products from the blood to be carried from the body in the urine. In nephrotic syndrome type I, the kidneys do not function properly; they allow protein to leak out. Usually, infants lose massive amounts of protein through the urine. The body responds to this abnormal loss of protein by retaining water. This leads to swelling because of fluid buildup in various parts of the body; this is called edema. The loss of protein can occur before birth and most infants are born prematurely. Infants also lose blood cells. They also lose antibodies, which are specialized proteins that help the body fight off infection. Because they lack the normal number of antibodies, infants and children are prone to developing repeated infections. They are also prone to developing blood clots in the body. The growth and development of infants and children is slowed and remains slowed despite treatment. They may need a feeding tube during infancy to ensure they get enough nutrients and calories. Nephrotic syndrome type I is a serious disorder and can be fatal in the first years of life. Kidney function usually continues to worsen until the kidneys fail completely. This is called end stage renal failure and will require a kidney transplant to fix. Even with treatment, most infants or children will require a kidney transplant.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2017-07-01


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Hall G, Winn MP. Inherited Causes of Nephrotic Syndrome. In: Johnson RJ, Feehally J, Floeje J, eds. Comprehensive Clinical Nephrology. 5th ed. Philadelphia, PA: Elsevier Saunders;2015.

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