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Nephrotic syndrome - congenital
An ultrasound done on the pregnant mother before birth may show a larger than normal placenta. The placenta is the organ that develops during pregnancy to feed the developing baby.
Pregnant mothers may have a screening test done during pregnancy to check for this condition. The test looks for higher than normal levels of alpha-fetoprotein in a sample of amniotic fluid. Genetic tests should be used to confirm the diagnosis if the screening test is positive.
After birth, the infant will show signs of severe fluid retention and generalized swelling. The health care provider will hear abnormal sounds when listening to the baby's heart and lungs with a stethoscope. Blood pressure may be high. There may be 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.
Nephrotic syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap. 527.
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