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.

Nephrotic syndrome - congenital

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 of nephrotic syndrome include:

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

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.

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.

Complications of this condition include:

• Acute kidney failure
• Blood clots
• Chronic kidney failure
• End-stage kidney disease
• Frequent, severe infections
• Malnutrition and related diseases

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

Published Date: September 02, 2025
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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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