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Congenital & Infantile Nephrotic Syndrome (CNS & INS)

Congenital Nephrotic Syndrome (CNS) is a rare kidney disorder that begins at birth or within the first 3 months of life.  

Infantile Nephrotic Syndrome (INS) is also a rare kidney disorder that occurs between 3 months and 1 year of life.

Who Gets CNS or INS

CNS and INS are caused by genetic mutations. NPHS1 is also known as the Finnish-type of CNS, and most commonly found in people with Finnish ancestry.  Non-Finnish individuals often have NPHS2 mutations. But some causes of CNS/INS are not genetic.

Other non-genetic causes include infections such as cytomegalovirus, congenital syphilis, and congenital toxoplasmosis 

CNS & INS Facts

In most cases with Congenital and Infantile Nephrotic Syndrome patients, biopsy findings usually indicate FSGS. The majority of CNS mutations (NPHS1 or NPHS2) are autosomal recessive diseases, meaning both parents are carriers of CNS and the possibility of having an affected child is 25% (or 1 in 4 children will have the disease).

80% of CNS Cases

are caused by in four different gene mutations: NPHS1 and NPHS2, LAMB2, WT1, or PLCE1

Infants with CNS

may have failure to thrive, frequent life-threatening infections and be at risk for abnormal blood clotting 

2/3 of INS Cases

are explained in four gene mutations: NPHS1, NPHS2, LAMB2, or WT1

Many CNS Patients

develop end-stage kidney disease between ages 2 and 8, and require dialysis and transplant

Signs and Symptoms

These signs begin early in life, presenting a challenge for infants and young children.

Common symptoms include:

  • Protein in urine (Proteinuria) 
  • Low blood protein level in blood 
  • High cholesterol levels 
  • High triglyceride levels 
  • Swelling in face, eyes, and lower extremities

Recommended Management

To enhance health outcomes, preventive measures such as infection prevention and potential immunoglobulin replacement, blood pressure regulation, thrombosis prevention, anemia prevention, and management of severe edema, dehydration, and malnutrition are crucial. To help management symptoms:

  • Make genetic testing is a priority, after infectious screening is negative 
  • Optimize nutritional intake with high calorie and high protein diet  
  • Albumin infusions are often needed to manage swelling 
  • Closely monitor intake and output 

Your Treatment Options

Short-Term Goals: The short -term goal of treatment is to supplement the protein spillage through albumin infusions and to provide a high calorie diet due to risk for poor growth and to monitor for the development of anemia and hypothyroidism. If infections are frequent or severe, then may also need immunoglobulin replacement.    Often Medications such as ACE inhibitor medications and nonsteroidal anti-inflammatory drugs may be used to slow the spillage of protein in the urine. 

Long-Term Goals:  Removal of the kidneys may be necessary with need for dialysis until kidney transplantation can occur. 

**There are not FDA-approved treatment options for Congenital and Infantile Nephrotic Syndrome. Often, genetic forms of Congenital and Infantile Nephrotic Syndrome patients do not respond to steroids and most do not respond to immunosuppressant medications. Treatments are aimed at controlling the symptoms, such as swelling, high blood pressure, high cholesterol, and reducing the risks of blood clots and infections. Many patients require a bilateral nephrectomy (removal of kidneys), need dialysis, and are referred for a transplant.  

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Clinical trials are another treatment option.

Your doctor helps you find the right study for you. These trials test more targeted treatments with potentially lower risks of side effects.

Some clinical trials enroll patients, based on their genetic testing results, to test the effectiveness of precision-based therapies targeted to specific genetic changes.

Explore

Tips For Living With CNS or INS

Patients with CNS or INS benefit from supportive measures including:

Exercise

Regular, moderate activity helps manage your blood pressure and weight and improves your overall well-being.

Prescription Regimen

Follow your doctor’s instructions and take your medicines as prescribed.

Regular Check-Ups

See your doctor as scheduled to monitor your kidney function and quickly address any changes.

Support

Get help coping with the challenges of living with CNS or INS through support groups like NephCure. Learn more about our how we can support you.

Nutrition

Eat a diet low in salt and processed foods to manage your blood pressure and reduce strain on your kidneys. Learn more about a kidney-friendly diet and get our cookbook.

Related Resources

Video

Mental Health and Chronic Illness

Informational Documents

Top Ten Tips for Your Telehealth Appointment

Educational Materials

How Kidneys Work

Fact Sheet

Congenital Nephrotic Syndrome & Infantile Nephrotic Syndrome

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