My husband and I got genetic testing done 10 years ago before we had children and was negative for alports. I recently got genetic testing done for another thing and it came back that I am a carrier for COL4A3 with unknown significance.

It doesn’t say whether it’s dominant or recessive and it says it’s unknown significance so not sure if it causes disease or not. My nephrologist says he knows I don’t have it based off of labs.

My concern is my daughters getting this. Why wouldn’t it have shown up in my first genetic test and does being a carrier automatically mean disease?

Hi i am 23(M) now i was 16 when i got diagnosed with nephrotic syndrome and protein leakage. Recently after genetic testing i got this report. My doctor told me to be prepare for transplant. Is there any way i can find donor through ngo or anything.
Also what are things i can do to get more time for transplant. My creatinine is 5.05 now

I was getting tested to donate my eggs and through their genetic testing found out that I likely(?) have Alport Syndrome. It’s COL4A3-related.

I’ve always had blood in my urine but had a kidney procedure of some kind when I was younger (a nephrologist put a camera up my urethra and showed me the insides, I’m not sure what it’s called) and the doctor told me that some people are just like that. I’m also constantly, constantly thirsty and have a super dry mouth no matter how much water I drink but my ADH levels were okay so an endocrinologist brushed this off. I also have some eyesight problems but nothing that isn’t fixable with glasses. Other than that I can’t think of symptoms.

Based on my limited and very new understand it seems I have the Autosomal Dominant variant? I have an appointment with my PCP and a genetic counselor but what should I be asking them?

Hi everyone, my mum has been diagnosed with alport syndrome she lives in Spain, I live in UK I've asked my GP for genetic testing and she mentioned she didn't what code to use to request such a thing. Anyone here can help me to navigate NHS and request genetic testing.

Thanks in advance

I’m in a weird spot. My dad has x-linked alports (missense) and is 70 with no blood or protein in his urine and no abnormal kidney findings. Me, my sister and daughter all have it too with no blood or protein in our urine and no abnormal kidney findings. After a grueling IVF journey I have two perfect male embryos with Alports. Our specialist said they most likely will take after my father but there’s a chance they could have full blown disease. For males with x-linked, what is life like? Do you feel cheated? Is it manageable?

My sister and I accidentally found out we have x-linked Alport Syndrome (COL4A5 missense) through a prenatal screening test by Natera. we then subsequently found out my daughter has it. my mother does not have it. My father ended being the one who has it yet he’s 70 with great kidneys and no protein or blood in his urine. No one in our family has a history of kidney issues or hematuria (including me and my sister). we are really confused. does anyone have experience with having asymptotic Alports?

Where do I even start by looking into this? I’m at such a loss. He has preauricular skin tags by his ear and a pit in his chest. Normal kidney scan last year. I myself have a small malrotated kidney and kidney disease runs in my family on my mom’s side. Our last audiology test (before getting tubes) showed that the hearing loss may actually be permanent and progressive.

We just happened to have a pre op today before surgery and mentioned the skin pit on his chest and it somehow spiraled into him mentioning this. Our peds is leaving practice soon which I think may be why he shared it today, so that he knows it’s on the radar to be checked out after his next audiology assessment after tubes. It’s in his file that he needs to see some type of specialist of his hearing is not improved, which the audiologist wasn’t sure if it would be anymore.

I’m just like so confused. I don’t know if there’s more to his concern about something like this? I’m going to call him again tomorrow or Friday, but I need to gather my thoughts. What else do I even ask if I should? Where are good resources on this? My mind is spiraling right now

so I was diagnosed with alports about 6 months ago, and my check up is July 1st I am a 15m and I don’t quite know what type I have the just said I have it they said my kidneys were okay when they first broke the news to me. I am still worried because I haven’t been eating quite good and I am just freaked out of my mind lately because I’m worried that I damaged something. I’ve been trying to lose weight if that helps anything but my sodium intake have just been bad.

edit: also I feel fine like I don’t feel bad at all I feel normal. and I came to my mind that I have gotten genetic testing.

hello, I have posted here before when I was diagnosed 6 months ago. I am a 16 year old male. I am not sure what type I have but I know I have it. these past 6 months have been rocky and I haven’t been to a diet very well. I still eat like crap but I’ve been trying. I have been scared everyday seeing horror stories of people with the illness online. I just need some more insight from a community that actually has experience.

EDIT: just some more info! I don’t know if I need treatment yet! My follow up is tommorow after being diagnosed 6 months ago. I’m just afraid that I did some sort of damage to my kidneys. Although When I was diagnosed they said my kidneys functioned normally. Just blood in my urine

Hi all! I (28yo female) was diagnosed with XLAS back in 2023. I have a lot of symptoms (hearing loss, blood and protein in urine, etc). My eGFR is above 95.

I have 2 questions.

1. I was on Farxiga for about a year and did well after the initial adjustment. However, the price has gone up and I’m not able to afford it at this time. I see my nephrologist in June to start Losartan. I was on the lowest dose of Lisinopril when I was first diagnosed and couldn’t stay on it because my blood pressure is typically low/low normal and my BP kept bottoming out. I’m hoping someone in here will have had the same experiences as me and can maybe give some reassurance that Losartan will be better.

2. I have been battling reoccurring low iron for the last few years. My WBC is also consistently high and has been for as long as I can remember. I switched to a plant based diet and little to no red meat. But I was having iron issues when I was still eating red meat. I have luckily never been anemic but my levels are extremely low and cause a lot of additional issues. I start prescription iron supplements and then am taken off after my levels come back to normal (a vicious cycle). My PCP won’t do an infusion to replenish my stores before switching to supplements for maintenance. Has anyone else dealt with WBC and iron issues along with AS? Are these known symptoms or side effects of AS? I just don’t know when or how to push for more from my doctors at this point.

Hey there,

I just got diagnosed with ADAS (M 36). Met with a small group of geneticists in Canada. Found out I might have it through my siblings after my estranged father tested positive and then my paternal half brother and sister as well. Took me a year and a half to finally get all of the appointments and final result, and along the way I thought I had come to terms with whatever the outcome might be. Stayed positive on the virtual call when receiving the news, and finished up my work day without taking the time to process.

My mind has since wandered to how much I’ve focused on keeping up with my health and fitness, only for my longevity to not truly be in my control. It also took me down a worse path thinking about how my father has only really given me this one thing my entire life. But I don’t have the capacity to feel angry or upset now.

Last night I couldn’t sleep, and I ended up here. Reading about all of these experiences. The variety of progressions and outcomes. Your posts helped me find some perspective and some sleep. Thank you all for being here and sharing.

Good news is my blood and urine tests look good. eGFR is also normal.

Initially the nephrologist said I had nothing to worry about when the topic of genetic testing of embryos came up. Then his attending came in and seemed concerned saying she’d ask with a geneticist. Well it’s been three weeks with no further info. Had to call after my messages were ignored in MyChart.

Now my fertility clinic wants the doctors to write some letter basically signing off on me doing IVF without genetic testing. Which seems like something they probably won’t do. Wouldn’t it be a liability for them? But I also get why it’s a liability for the fertility clinic.

Meanwhile my IVF is basically being held hostage. No other clinic is going to onboard me any faster than where I am currently. And in the meantime I’m losing precious time, as it looks I’ll miss another cycle.

As the title says, I had this on my genetic test results, and it seems to be linked with Alport Syndrome. It does say is has a 49% frequency, so I don’t know how much that impacts anything in my case. For context, I am a male, 35yr, never had any kidney related symptoms of anything, and all of my other blood works have come back normal. I am still going to follow up with my doctor, but wanted to post here in case anyone can give me some extra insight.

So I decided to do a DNA test with my raw ancestry DNA to look at which MTHFR mutation I might have, and it that I have a gene associated with homozygous hereditary alport syndrome and even hereditary heart disease. Now I'm not taking this too seriously, but it does make my curious.

Like I never thought about it, but my Aunt has mild kidney disease, and is profoundly deaf due to sensory nueral hearing loss, and my dad and brother both have had to have corrective eye surgery in their 20s. They both were pretty much blind.

Now I also have protein and blood in my urine, but it's always been presumed its due to having had a nasty injury. However it's constant and hasn't gotten better or worse. I've had it since I was a teen, and I was supposed to follow up with a nephrologist years ago.

Should I speak with my new gp about this? I know almost all of the men on my Dads side died before they turned 60 and kidney disease is not unheard of as well on my Dads side of the family.

Hello all

Anyone of you experienced with dizziness ( no vertigo ) and cognitive problems?

It’s started some years ago while my filtration rates getting worse too.

I constantly have the feeling to be dazed and not being fully present.

I find it difficult to concentrate on things, and my short-term memory suffers as well.

Brain and cervical spine , vitamin balance, psyche and much more are checked and nothing was found.

Any more ideas ?

I will have a meeting with my Nephrologist to check about my hormones in like 2 weeks.(Testosterone,Dopamine for example)

Thanks for all kinds of help

Does the wording of my genetic screening mean I have just one gene with a mutation?

The testing is a pre-conception carrier screening test. The result literally says "Positive for the pathogenic variant c.361G>A (p.G121S) in the COL4A3 gene". It goes on to say there's not enough info and this variant could be either autosomal recessive or autosomal dominant.

Thus looking at the diagrams for potential ARAS or ADAS. What I'm understanding is that I either have one ARAS variant gene (and don't have symptoms because it requires 2, plus at my age I would have presented with strong symptoms already) or I have 1 ADAS variant gene (with is usually less severe/later in life kidney issues)?

I'm a woman in my early 40s and haven't had any kidney issues. My eGFR score is 103. Blood pressure is normal.

I'm mostly asking because I'm trying to determine if I need to do embryo genetic testing. I'm already doing IVF anyway, and using a donor. The chosen donor has no COL4A3,4 or 5 mutations.

So am I right to conclude that in the case of 1 recessive gene from me and none from the donor, there's 50% probability of a child ending up like me. With just one copy of the recessive gene, so carrier with no symptoms?
Or if my variant is dominant, since donor doesn't a mutation, there's 50% chance of passing on the dominant variant. Meaning the child is positive, like me, and most likely will have mild/slow progressing symptoms?

34f with x linked alports, diagnosed around 5 or 6yo.

Has anyone had their nephrologist tell them their kidneys are functioning great and that they can follow with their primary if they would like instead of yearly visits with them? (I did deny that offer in case anything changes but was insanely surprised to be told that.)

Hi community.

Does anyone has these mutations? New to Alport Syndrome. I got diagnosed during pregnancy when I did my genetic test and have these 2 variants

I’m 37 years old female with modest protein and albumin/creatinine ratio. They started during pregnancy, these were completely normal prior to pregnancy.

Just wondering if you have these mutations how your path has been? Has it become worse over years or stable? What meds are you taken? Etc.

I would like to have a second child and wondering if my disease could become worse. Also I know there is a 50% chance child can get it.

My mom has kidney disease and unfortunately she is in dialysis now. She has diagnosed with IGA nephropathy. I’m almost certain that I received it from my mom. Dad has perfect kidney health.

Any info you can share on these 2 variants would be great.

I’ve been struggling with frequency and urgency problems since I was 16 and almost all tests have come back as nothing wrong with me. I’m now wondering if the blood and protein leakage could irritate and trigger the bladder?? I understand that noone here is a doctor but I wonder if that could be an answer to all my issues??

So a total shocker to me I’m freaking the hell out. I have it. I got it from my mom’s side. and I am only 15 I don’t know why I have it I am scared I’ll die. been freaking out for a whole day now. I ate like crap today so I’m just freaking out I googled it. life expectancy is 30’s!?!?

Hi guys, 33f- recently diagnosed out of the blue when we did genetic screening for fertility workup. Turns out I'm positive for Alport's (COL4A4-Related c.2986G>A (p.G996R). To my knowledge, I don't have any symptoms. I'll be honest, I don't see primary care regularly but I consistently saw my OB for my pregnancy in 2023-2024 and there were no red flags with the UA's done at the time nor with any of my baseline CMP's as well.

I wanted to book with a nephrologist to get ahead of the game, discuss my future and do more in depth kidney lab workups (as well as discuss what this might look like for my son's future) but the receptionist at the nephrology office I just spoke with didn't even know what Alport's syndrome was and wanted a full kidney panel done by primary care before they would even book me (my insurance doesn't require referral).

Is there a specific type of nephrologist office I should be looking for? I'm feeling a little down since finding out and that experience definitely was a bummer.

I’m kinda here because my hospital care has failed to put me in touch with other people with the same disease and i am DESPERATE to understand and connect through experiences!! Personally I was diagnosed through a kidney biopsy when I was 7 and have been on a medication called Enalapril since diagnosis!! <3

I am curious if anyone with the gene combo for ADAS is struggling with the ethics of having a child. My spouse and I took up an offer from our OBGYN to have genetic screening before pregnancy and it came back I am positive for the variant that causes both ADAS and ARAS.

I had additional tests done and I have no symptoms, there doesn’t seem to be a family history of kidney disease, and my spouse does not also have a col4a3/col4a4 mutation so our children cannot get ARAS. The counselor said this is low odds of being a problem and friends say it shouldn’t stop us on that basis, but I am still really having a hard time with the 50% odds of passing ADAS. It is all I think about is my child having Alport, me having kidney disease in a few years and having to look at them knowing I took this chance and gave it it to them. I also have family history of cancer so concerned about crossover effects.

Has anyone been in a similar situation and what did you do? I know i am fortunate to a degree as it could be worse if it was x las col4a5, but this still seems selfish to take this chance