Learn About 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.
Nephrotic syndrome - congenital
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 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 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 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.
Nephrology Associates PA
Manthodi Faisal is a Nephrologist and a Neurologist in Chadds Ford, Pennsylvania. Dr. Faisal and is rated as an Experienced provider by MediFind in the treatment of Congenital Nephrotic Syndrome. His top areas of expertise are End-Stage Renal Disease (ESRD), Chronic Kidney Disease, Acute Kidney Failure, and High Potassium Level. Dr. Faisal is currently accepting new patients.
The Nemours Foundation
Caroline Gluck is a Pediatric Nephrologist and a Nephrologist in Wilmington, Delaware. Dr. Gluck has been practicing medicine for over 14 years and is rated as an Experienced provider by MediFind in the treatment of Congenital Nephrotic Syndrome. Her top areas of expertise are Diabetic Nephropathy, Focal Segmental Glomerulosclerosis, Wilson Disease, Primary Hyperoxaluria, and Kidney Transplant. Dr. Gluck is currently accepting new patients.
Clinical Renal Associates LLC
Laura Panarey is a Nephrologist in Glen Mills, Pennsylvania. Dr. Panarey and is rated as an Experienced provider by MediFind in the treatment of Congenital Nephrotic Syndrome. Her top areas of expertise are Acute Kidney Failure, End-Stage Renal Disease (ESRD), Low Sodium Level, and Chronic Kidney Disease.
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.
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: August 28, 2023
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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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.