Congenital nephrotic syndrome is a condition in which the kidneys are unable to properly filter waste products from the blood and remove them in the urine. Babies usually present with symptoms within the first 3 months of life. Symptoms include having too much protein in the urine, increased cholesterol in the blood, an abnormal buildup of fluid in the abdominal cavity and whole-body swelling. Other symptoms may include a reduced number of red blood cells, abnormal blood clotting, and reduced amounts of certain white blood cells, which can lead to frequent infections. Although the severity of congenital nephrotic syndrome can be variable, affected individuals typically experience kidney failure during childhood. Treatment for the condition may include dialysis or kidney transplant.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.
If both parents are carriers of nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related), there’s a one in four chance that their children could develop symptoms.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related), but there's a total 301 conditions that can be tested.
Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.
Since 90% of children that have a recessive genetic disease like nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.