Congenital nephrotic syndrome
Congenital nephrotic syndrome is a disorder that is passed down through families in which a baby develops protein in the urine and swelling of the body.
Causes
Congenital nephrotic syndrome is an autosomal recessive genetic disorder. This means that each parent must pass on a copy of the defective gene in order for the child to have the disease.
Autosomal recessive genetic
Autosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...
Read Article Now Book Mark ArticleAlthough congenital means present from birth, with congenital nephrotic syndrome, symptoms of the disease occur in the first 3 months of life.
Congenital nephrotic syndrome is a very rare form of nephrotic syndrome.
Nephrotic syndrome is defined by a set of abnormal findings that include:
- Protein in the urine
- Low blood protein levels in the blood
- High cholesterol levels
- High triglyceride levels
- Swelling
Children with this disorder have an abnormal form of a protein called nephrin. The kidney's filters (glomeruli) need this protein to function normally.
Symptoms
Symptoms of nephrotic syndrome include:
-
Cough
Cough
Coughing is an important way to keep your throat and airways clear. But too much coughing may mean you have a disease or disorder. Some coughs are d...
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Decreased urine output
Decreased urine output
Decreased urine output means that you produce less urine than normal. Most adults make at least 500 milliliters of urine in 24 hours (a little over ...
Read Article Now Book Mark Article - Foamy appearance of urine
-
Low birth weight
Low birth weight
Small for gestational age means that a fetus or an infant is smaller or less developed than normal for the baby's sex and gestational age. Gestation...
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Poor appetite
Poor appetite
A decreased appetite is when your desire to eat is reduced. The medical term for a loss of appetite is anorexia.
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Swelling (total body)
Swelling
Swelling is the enlargement of organs, skin, or other body parts. It is caused by a buildup of fluid in the tissues. The extra fluid can lead to a ...
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Exams and Tests
An ultrasound done on the pregnant mother may show a larger-than-normal placenta. The placenta is the organ that develops during pregnancy to feed the growing 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 are then used to confirm the diagnosis if the screening test is positive.
After birth, the infant will show signs of severe fluid retention and 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 fat and large amounts of protein in the urine. Total protein in the blood may be low.
Urinalysis
Urinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...
Read Article Now Book Mark ArticleTotal protein
The total protein test measures the total amount of two classes of proteins found in the fluid portion of your blood. These are albumin and globulin...
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Early and aggressive treatment is needed to control this disorder.
Treatment may involve:
- Antibiotics to control infections
- Blood pressure medicines called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) to reduce the amount of protein leaking into the urine
- Diuretics ("water pills") to remove excess fluid
- NSAIDs, such as indomethacin, to reduce the amount of protein leaking into the urine
Fluids may be limited to help control swelling.
The provider may recommend removing the kidneys to stop protein loss. This may be followed by dialysis or a kidney transplant.
Dialysis
Dialysis treats end-stage kidney disease also called kidney failure. It removes waste from your blood when your kidneys can no longer do their job. ...
Read Article Now Book Mark ArticleKidney transplant
A kidney transplant is surgery to place a healthy kidney into a person with kidney failure.
Read Article Now Book Mark ArticleOutlook (Prognosis)
The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early and aggressive treatment, including an early kidney transplant.
Possible Complications
Complications of this condition include:
- Acute kidney failure
- Blood clots
-
Chronic kidney failure
Chronic kidney failure
Chronic kidney disease is the slow loss of kidney function over time. The main job of the kidneys is to remove wastes and excess water from the body...
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End-stage kidney disease
End-stage kidney disease
End-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...
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- Malnutrition and related diseases
When to Contact a Medical Professional
Contact your provider if your child has symptoms of congenital nephrotic syndrome.
Reviewed By
Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Erkan E. Nephrotic syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 545.
Schlöndorff J, Pollak MR. Inherited disorders of the glomerulus. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 43.
Vogt BA, Springel T. The kidney and urinary tract of the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 93.
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