Learn About Congenital Nephrotic Syndrome

What is the definition of 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.

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What are the alternative names for Congenital Nephrotic Syndrome?

Nephrotic syndrome - congenital

What are the causes of Congenital Nephrotic Syndrome?

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.

Although 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 a group of symptoms 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.

What are the symptoms of Congenital Nephrotic Syndrome?

Symptoms of nephrotic syndrome include:

  • Cough
  • Decreased urine output
  • Foamy appearance of urine
  • Low birth weight
  • Poor appetite
  • Swelling (total body)
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What are the current treatments for Congenital Nephrotic Syndrome?

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.

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What is the outlook (prognosis) for Congenital Nephrotic Syndrome?

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.

What are the possible complications of Congenital Nephrotic Syndrome?

Complications of this condition include:

  • Acute kidney failure
  • Blood clots
  • Chronic kidney failure
  • End-stage kidney disease
  • Frequent, severe infections
  • Malnutrition and related diseases
When should I contact a medical professional for Congenital Nephrotic Syndrome?

Contact your provider if your child has symptoms of congenital nephrotic syndrome.

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Who are the sources who wrote this article ?

Published Date: July 27, 2021
Published By: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

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.