Congenital Nephrotic Syndrome & Pierson Syndrome
I have been MIA from social media these last few weeks. We have had a visitor in town, and it seemed like we didn't do anything, but we have been up and running around quite a bit. I have barely even been keeping up with my Animal Crossing Island! Yikes! Since I want to follow up my previously shared story with some information, I will do that and then catch everyone up on our recent activities next week!
I researched a bit on Congenital Nephrotic Syndrome and Pierson Syndrome. First I want to share these YouTube videos. They are pretty straightforward about the basics of the kidneys and a teeny bit on genetics. I thought it might make a great intro in case you haven't taken time to study it in the past.
Avery's mom (from last week's story) had mentioned that there is very little known about Pierson Syndrome. I am finding that too! But here is a little share on the information I COULD find.
Pierson Syndrome
Pierson Syndrome is a RARE genetic disease, with only about 70 known cases. It is classified as *autosomal recessive*. (The second YouTube video posted above is very nice to help with terminology.) But, in quick(ish) terms…in order for a baby to inherit this disorder, BOTH parents need to have a mutated recessive gene. Neither of the parents will express this gene, so they do not have the disorder themselves, but putting their genes together may cause this outcome for their child. For this reason, genetic testing at maternal health appointments, can help to determine if this syndrome may be present.
Sadly, most children who are born with Pierson Syndrome do not live beyond their first few days/months of life. This is often due to congenital nephrotic syndrome (see below for a short description of this syndrome). Pierson Syndrome most commonly causes effects on the kidneys and eyes. These babies are often born blind, or with abnormally small and unresponsive pupils (called microcoria). They have non-functional kidneys, present with protein in their urine, their muscles often too weak to function, or they develop neurologic problems.
(As a follow up to Avery's story, this is why they were hoping for her to hit the weight goal to receive a new kidney. She was also blind.)
That is literally all I could find, which is a bummer. At least it is something though.
Congenital Nephrotic Syndrome
When the main filter in the kidney (the glomerulus) is not functioning properly/stops working altogether, protein starts leaking out and becomes present in the urine. *Congenital* cases are those that are passed down from a parent. Otherwise nephrotic syndrome is idiopathic, meaning that the origin is unknown. Little ones who cannot survive long enough to have kidney transplants and have nephrotic syndrome result in death by kidney failure.
And how does this happen? Kidney dysfunction or kidney failure has major side effects on the body:
water regulation is disrupted - the body will retain fluid, meaning the baby can become very swollen
waste products will build up in the body and blood is not filtered properly - preventing blood from circulating properly, and a higher likelihood that chemicals that will need to be filtered out another way (often by dialysis)
I hope this was of interest to everyone! Here are some resources for more information.
https://disorders.eyes.arizona.edu/disorders/pierson-syndrome
https://www.stanfordchildrens.org/en/topic/default?id=nephrotic-syndrome-in-children-90-P03098
https://www.yourgenome.org/facts/what-are-dominant-and-recessive-alleles
https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome
