Congenital Nephrotic Syndrome

Overview

Congenital Nephrotic Syndrome is a rare kidney disorder that appears in infants within the first few months of life. The condition causes the kidneys to leak large amounts of protein into the urine, leading to swelling, poor growth, and increased risk of infections.

This disorder affects the filtering units of the kidneys, called glomeruli, which normally prevent important proteins from being lost in the urine.

At Moolchand Hospital, infants with kidney disorders receive specialized care from pediatric nephrologists and neonatologists. As a trusted multi super speciality hospital in Delhi and a leading hospital in Lajpat Nagar Delhi, Moolchand provides advanced diagnostic evaluation, pediatric kidney care, and comprehensive neonatal support.

What is Congenital Nephrotic Syndrome?

Congenital nephrotic syndrome is a kidney disease present at birth or developing within the first three months of life. The condition occurs when the kidney’s filtering system does not function properly, allowing proteins to leak into the urine.

Protein loss from the blood leads to fluid accumulation in body tissues, which causes swelling.

Most cases are genetic and may be linked to inherited mutations affecting kidney function.

Symptoms

Symptoms of congenital nephrotic syndrome usually appear soon after birth or during early infancy.

Common symptoms include:

• Severe swelling (edema), especially around the eyes and legs
  
  

• Foamy urine due to excess protein
  
  

• Poor weight gain or growth
  
  

• Fatigue and weakness
  
  

• Increased risk of infections
  
  

• Low levels of protein in the blood
  
  

• Enlarged abdomen due to fluid accumulation
  
  

Early medical evaluation is important when these symptoms appear.

Causes

Congenital nephrotic syndrome is most commonly caused by genetic mutations affecting the kidney’s filtration barrier.

Possible causes include:

• Genetic abnormalities affecting kidney structure
  
  

• Inherited mutations such as NPHS1 or NPHS2 gene defects
  
  

• Rare infections during pregnancy
  
  

• Certain congenital conditions affecting kidney development
  
  

The Finnish-type congenital nephrotic syndrome is one of the most well-known inherited forms.

Risk Factors

Factors that may increase the risk include:

• Family history of genetic kidney disorders
  
  

• Parental carrier status of certain gene mutations
  
  

• Certain congenital abnormalities
  
  

Because many cases are genetic, early genetic counseling may be recommended for families.

Diagnosis

Doctors diagnose congenital nephrotic syndrome through specialized tests.

Diagnostic methods may include:

• Urine tests to detect excessive protein
  
  

• Blood tests to measure protein and kidney function
  
  

• Kidney ultrasound imaging
  
  

• Genetic testing to identify inherited mutations
  
  

• Kidney biopsy in selected cases
  
  

At Moolchand Hospital Delhi, advanced laboratory and imaging facilities help confirm the diagnosis and guide treatment.

Treatment

Treatment aims to manage symptoms, reduce protein loss, and prevent complications.

Medical Management

Treatment may include:

• Medications to reduce protein loss
  
  

• Diuretics to control swelling
  
  

• Blood pressure medications to protect kidney function
  
  

Nutritional Support

High-protein nutritional support may help maintain healthy growth in infants.

Infection Prevention

Infants with congenital nephrotic syndrome are more prone to infections and may require preventive care.

Advanced Treatments

In severe cases, treatment options may include:

• Dialysis for kidney failure
  
  

• Kidney transplantation later in childhood
  
  

Early specialist care helps improve long-term outcomes.

Possible Complications

If not properly managed, congenital nephrotic syndrome may lead to:

• Severe infections
  
  

• Blood clots
  
  

• Malnutrition
  
  

• Kidney failure
  
  

• Growth delays
  
  

Regular monitoring and early treatment significantly reduce these risks.

Prevention

Because congenital nephrotic syndrome is often genetic, prevention may not always be possible. However, certain measures can help:

• Genetic counseling for families with a history of kidney disorders
  
  

• Prenatal screening in high-risk pregnancies
  
  

• Early medical evaluation of newborns with swelling or abnormal urine tests
  
  

Why Choose Moolchand Hospital?

Parents choose Moolchand Hospital Lajpat Nagar for pediatric kidney care because of:

• Experienced pediatric nephrologists and neonatologists
  
  

• Advanced diagnostic laboratory facilities
  
  

• Comprehensive newborn and pediatric care
  
  

• Multidisciplinary treatment for complex conditions
  
  

• Modern intensive care and monitoring systems
  
  

• Trusted care at a leading private hospital in Delhi
  
  

The hospital provides specialized care for rare pediatric kidney disorders, focusing on early diagnosis and long-term management.