What is Congenital Nephrotic Syndrome?
Congenital Nephrotic Syndrome (CNS) is a rare kidney disorder that presents shortly after birth, typically within the first three months of life. It is characterized by a triad of
proteinuria, hypoalbuminemia, and edema. This condition is predominantly caused by genetic mutations affecting the integrity of the
glomerular filtration barrier, leading to excessive loss of proteins in the urine.
What Causes Congenital Nephrotic Syndrome?
The most common cause of CNS is genetic mutations. The Finnish type, due to mutations in the
NPHS1 gene, is the classic form of CNS. Mutations in other genes such as
NPHS2,
WT1, and
LAMB2 can also lead to CNS, each presenting with varying clinical features and prognosis. These genetic mutations disrupt the function of nephrin or podocin, critical proteins for the
podocyte structure and function, ultimately affecting the kidney's filtering capacity.
How is Congenital Nephrotic Syndrome Diagnosed?
Diagnosis of CNS involves a combination of clinical evaluation, laboratory tests, and genetic testing. Initial laboratory tests reveal significant
proteinuria, low serum albumin levels, and often elevated cholesterol levels. A renal biopsy might be performed to observe the histological changes in the kidney tissue, though this is less common if a genetic cause is suspected. Genetic testing is crucial for confirming the diagnosis and identifying the specific mutation responsible for the disease.
What are the Symptoms of Congenital Nephrotic Syndrome?
Infants with CNS often present with severe swelling and edema, particularly in the face, abdomen, and limbs. Other symptoms include poor growth, frequent infections due to loss of immunoglobulins, and potentially life-threatening complications like
thrombosis. Due to protein loss, infants may also exhibit symptoms like fatigue, irritability, and poor appetite.
What is the Treatment for Congenital Nephrotic Syndrome?
Treatment of CNS is challenging and often requires a multidisciplinary approach. The primary goal is to manage symptoms and prevent complications. This may include
diuretics to reduce edema, albumin infusions to replenish lost proteins, and anticoagulants to prevent thrombosis. Nutritional support is vital to ensure adequate growth and development. In severe cases, renal replacement therapy, such as
dialysis or kidney transplantation, may be necessary. Genetic counseling is also recommended for the family to understand the condition and its inheritance pattern.
What is the Prognosis for Patients with Congenital Nephrotic Syndrome?
The prognosis for CNS varies depending on the specific genetic mutation and the severity of the condition. Without treatment, the disorder can lead to life-threatening complications such as kidney failure. However, early diagnosis and appropriate management can significantly improve outcomes. In recent years, advances in genetic research and transplantation have improved the quality of life and survival rates for affected individuals.Are There Any Preventive Measures for Congenital Nephrotic Syndrome?
Since CNS is primarily a genetic disorder, preventive measures are limited. However, genetic counseling for families with a history of the condition can offer insights into the risk of recurrence in future pregnancies. Prenatal genetic testing may be an option for at-risk couples to make informed reproductive choices.
