Alport Syndrome COL4A4
I was just diagnosed with Alport Syndrome COL4A4 through genetic testing from Natera. My new nephrologist felt I should consider this since my dad died of ESRD along with heart failure. I am both Autosomal Dominant and Recessive which means it is hereditary. I have three children and five grands so I have to tell them. I will wait though until I get a full understanding of this diagnosis. Most people are in their childhood when this shows up and are usually to the point of dialysis at a young age. Some loose their hearing and have vision loss too. I was told that the doctors thought I had a rare kidney disease as a child because I spilled blood in my urine. This syndrome is associated with hematuria and proteinuria. I have both. The thing is I am 70 now so my syndrome didn’t progress in my childhood and it didn’t start to get worse until my mid 50’s when I developed high blood pressure (I was slightly overweight) and was diagnosed with a blockage which was fixed. Now I went on a diet and lost around 40lbs so I am 125 plus now I’m on a plant based diet so no fast foods or processed foods only fresh fruit and vegetables along with tofu and once or twice a week animal protein. My blood pressure got so much better it tanked! I was so low they actually had to stop my heart meds. That wasn’t good news because those help lower the protein. My nephrologist suggested I add sodium to my diet to up my pressure so I could take my meds to lower my pressure and therefore lowering my protein spill. Such a crazy convoluted situation.
I have my next meeting with my nephrologist this week. I am hoping to understand this genetic testing and get clarity. I am also hoping my numbers are a little better. In January they were horrible. I did a lot of cheating and got lax during the holidays, Thanksgiving through New Years!!! I have tried to be good and keep to what I know is safe to eat.
Please let me know if you’ve got Alport Syndrome and what gene? Also, has anyone else been genetically tested? It’s a blood test.
Hi
, thank you for starting this discussion board. It sounds like you've been through quite a lot. I'm glad you finally got some answers, but it still seems like it is a lot to digest, so I hope you'll be gentle with yourself as you process all of this new information. I also hope some more people will chime in to share their experiences with Alport syndrome. We have a thread where someone mentioned they have it as well: https://chronic-kidney-disease.net/forums/alport-syndrome. Please keep us updated on how your next nephrologist appointment goes, I hope you can get more clarity. Warmly, Minel (Team Member) Hello Minel. I did try and get a genetic counsel from Natera but the earliest appointment is in May! I guess a lot of folks are getting tested for stuff. Even though I now know what genetically is causing my CKD it doesn’t change my CKD. I still have this illness and I still need to try and do everything I know how to do to slow it down. It did inform me that my mutated genes are hereditary and I can pass them to my children. That I wouldn't have known if I hadn’t of gotten tested. So for that reason I’m glad. I feel like getting genetically tested is easier and not as invasive as a kidney biopsy is.
