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Congenital nephrotic syndrome

• Overview
• Symptoms
• Treatment

Alternative Names:

Nephrotic syndrome - congenital

Symptoms:

• Low birth weight
• Large placenta
• Swelling (total body)
• Decreased urine output
• Foamy appearance of urine
• Poor appetite
• Cough

Signs and tests:

An examination reveals massive fluid retention and generalized swelling. Abnormal sounds are heard when listening to the heart and lungs with a stethoscope. Blood pressure may be high. The patient may have signs of malnutrition.

A urinalysis reveals large amounts of protein and the presence of fat in the urine. Total protein in the blood may be low. The disorder can be screened for during pregnancy by finding elevated levels of alpha-fetoprotein on a routine sampling of amniotic fluid. Genetic tests should be used to confirm the diagnosis, if the screening test is positive.

Frequent infections may occur over the course of the disease.

• Review Date: 7/25/2006
• Reviewed By: David M. Charytan, M.D., M.Sc., Department of Medicine, Division of Nephrology, Brigham and Women's Hospital, Boston, MA. Review provided by VeriMed Healthcare Network.

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