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Congenital nephrotic syndrome
     
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Congenital nephrotic syndrome

Nephrotic syndrome - congenital

 

Congenital nephrotic syndrome is a condition 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 condition. This means that each parent must pass on a copy of the variant 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 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 condition have a variant form of a protein called nephrin. The kidney's filters (glomeruli) need this protein to function normally.

 

Symptoms

 

Symptoms of nephrotic syndrome include:

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

 

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. Your child's health care provider will hear abnormal sounds when listening to your 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.

 

Treatment

 

Early and aggressive treatment is needed to control this condition.

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
  • Nonsteroidal anti-inflammatory drugs (NSAIDs), such as indomethacin, to reduce the amount of protein leaking into the urine

Fluids may be limited to help control swelling.

Your child's provider may recommend removing the kidneys to stop protein loss. This may be followed by dialysis or a kidney transplant.

 

Outlook (Prognosis)

 

The condition 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
  • End-stage kidney disease
  • Frequent, severe infections
  • Malnutrition and related diseases

 

When to Contact a Medical Professional

 

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

 

 

Open References

References

Erkan E. Nephrotic syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 567.

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. The kidney and urinary tract of the neonate. In: Martin RJ, Fanaroff AA, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 12th ed. Philadelphia, PA: Elsevier; 2025:chap 97.

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                Review Date: 9/2/2025

                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.

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