Congenital Nephrotic Syndrome

What is congenital nephrotic syndrome (CNS)?

Congenital nephrotic syndrome is a kidney condition that begins very early on in development, either during pregnancy or within the first three months of life. It is a very rare form of nephrotic syndrome. Symptoms occur because the kidneys fail to filter waste products from the blood and remove them from urine. CNS affects about 1 to 3 per 100,000 children worldwide, but is particularly common in Finland, where it is estimated to affect 1 in 10,000 children.

What are the symptoms of CNS?

High levels of protein in the urine
Swelling throughout body
Coughing
Failure to thrive
Recurring infections
Low birth weight
Low blood protein levels
High cholesterol levels
Abnormal blood clotting
Decreased urine output
Foamy appearing urine
End-stage kidney disease by early childhood

What causes CNS?

Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. CNS is inherited in an autosomal recessive pattern, which means that both parents need to pass down a copy of the mutated gene for the condition to occur. It is caused by mutations in the NPHS1 or NPHS2 genes.

How is CNS diagnosed?

CNS can be diagnosed using the following procedures:

Ultrasound
Prenatal screening
After birth, finding of characteristic signs
Listening to heart and lungs with stethoscope
Urinalysis
Genetic testing

What are the treatments for CNS?

Antibiotics to deal with infections
Blood pressure medications and/or NSAIDS to reduce protein leaking into urine
Diuretic medications to rid the body of excess fluid
Modified diet
Kidney transplant
Dialysis

Where can I find out more about CNS?