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
- 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
How is CNS diagnosed?
CNS can be diagnosed using the following procedures:
- Prenatal screening
- After birth, finding of characteristic signs
- Listening to heart and lungs with stethoscope
- 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
Where can I find out more about CNS?