​Congenital Nephrotic Syndrome​

Congenital nephrotic syndrome is a rare, inherited disorder in which a baby develops protein in the urine and the swelling of the body occurs, shortly after birth. Protein nephrin, found in the kidney, is required by the glomeruli (kidney's filter) to function properly. Congenital nephrotic syndrome occurs due to a defect in this protein, nephrin. As a result, your child may suffer from infection, malnutrition and kidney failure. It can also get fatal by the age of five, if not treated successfully. The disorder is most common in families of Finnish origin.

Nephrotic syndrome can also occur in the first three months of a baby's life and belongs to the same group of disorders as congenital nephrotic syndrome.  ​

Symptoms of congenital nephrotic syndrome include:

  • Cough

  • Decreased urine output

  • Foamy appearance of urine

  • Low birth weight

  • Poor appetite

  • Swelling of the entire body​​​

If you notice swelling in your baby's body along with a foamy appearance of urine, seek medical guidance by one of our internationally trained paediatric nephrologists at the Children's Hospital Service Line at The Aga Khan University Hospital, the only internationally accredited hospital in Pakistan.

Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.

Ultrasound of the mother during pregnancy may reveal a larger than normal placenta hinting the presence of congenital nephrotic syndrome. For further confirmation, a screening test of the amniotic fluid can be done to determine the levels of alpha-fetoprotein. If the levels are elevated, genetic testing can also performed to further confirm the diagnosis.

Congenital nephrotic syndrome can also be diagnosed after birth as the baby will exhibit:

  • Severe fluid retention, resulting in swelling

  • Abnormal sounds when your child’s doctor listens to their heart and lungs with a stethoscope

  • High blood pressure

  • Signs of malnutrition

For an accurate diagnosis, the doctor may request the following tests:

  • Urinalysis to determine the presence of fat and amount of proteins. You may be asked to collect your child’s urine samples over the period of twenty-four hours for an accurate result. Presence of fat and elevated levels of protein indicate congenital nephrotic syndrome

  • Blood test, to check the protein levels, which may show low levels of protein albumin and overall decreased levels of blood protein

Owing to the severity of the disease, your child would require the best possible treatment available. Children's Hospital Services at The Aga Khan University Hospital, houses the most proficient doctors of the country who will approach this disease with an aggressive and effective treatment plan in order to provide your child with a chance to lead a normal healthy life.

Discuss the treatment plan with the doctor to make sure that you are comfortable with the course of treatment being undertaken by the doctor. Treatment options may include:

  • Medications to control the infection

  • Medications to prevent the leakage of protein into the urine

  • Prescribed diuretics which assist in controlling the swelling by increasing the fluid output by the kidney

  • Medications which prevent the leakage of the protein into the urine 

Your child’s doctor may recommend the removal of kidneys to stop protein loss. Your child may also have to undergo regular dialysis or kidney transplant.   ​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the 'Important Numbers' section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments' costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the 'Important Numbers' section on the website homepage.

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the 'Important Numbers' section on the website homepage.​

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.