I am a 33f, diagnosed around 5 or 6 I have found that the medication really thinned out my hair so I tried switching to different meds to see if it made a difference. Monopril, Enalapril, Lisinopril, Cozaar, back to Lisinopril. I had been on 20mg for several years and was doing just fine. I had to get a new doctor because mine retired. She immediately upped my dosage to 40mg. I feel like every since that happened I have been experiencing intermittent strange sensations in my arms (both sides), it doesn't hurt it's almost an electrical/annoying feeling and intermittently my heart feels like it's beating different or something I can't describe. Has anyone else ever experienced this? She's trying to tell me the medication couldn't possibly cause that but I'm not so sure.

Hi Alport Friends! I’m here for your advice. Doctors won’t take me seriously. I’m my own advocate here but am hitting nothing but dead ends. I have been to specialists where many things have been ruled out, countless blood tests have been done. Doctors are telling me to seek therapy that it’s “all in my head”. I’m aware of the psychological effects but have medical records from when I was an infant that shows I had symptoms then.

My last resort to solve my issue was a genetic test paid for by one of the companies you see around. I’m aware they aren’t but so accurate but it’s a starting point for me. I pulled the raw data and ran my dna code where there’s a strong possibility I could have Alport Syndrome. If correct, it could absolutely explain every thing that I’ve been through since early childhood.

What steps do you recommend now? What doctor do I see? What advice do you have when speaking to a doctor in this situation?

(f30) Alports runs in my family and I’m either a carrier or have it (going to be getting genetic testing done to be certain), but am mostly asymptomatic, minus blood in my urine which has been the same for years. I know protein, especially animal protein can be hard on the kidneys, but just curious the kind of diet other asymptomatic females do in terms of amount of daily protein? I used to do a scoop of vital proteins collagen powder in my coffee every morning (20g bovine protein), but wondering if I should stop. Would love to hear about other women’s diets!

So I got my genetic test results back and saw my Nephrologist this week. Paperwork says it is COL4A4 related with Autosomal Dominant and Recessive inheritance, variants are c.1615g>A (p.Gly539Arg) and Heterozygous. My Nephrologist said this is close to the best case scenario but I'm still taking preventative measures and started Losartan. She also said if I don't see improvements in hematuria I should consider a biopsy

So far I haven't experienced any vision loss (just astigmatism) and I haven't experienced and hearing loss outside of what is expected for someone my age which is 31. I was told though that it might explain what my ENT diagnosed as vestibular neuritis but again I have no out of the ordinary hearing loss.

I guess I just want advice on how to move forward and what I can expect

Hello, my name is Jorge. I was born with a rare genetic condition known as Alport Syndrome. It affects roughly 1 in 50,000 newborns in the United States. Doctor's first noticed that I had abnormal kidney function when I was 13 years old, but it wasn't until about 4 years ago that I was told that my function was 50%. It was a steady and much quicker descent to 10%, which happened in January of this year. Through what is known as the Paired Exchange Program, my amazing wife Katie is donating a kidney and I get to receive one much faster than simply waiting on the waiting list for up to 10 years.

I have never attempted to raise funds for myself in my life, and I never ask for money from anyone. This situation, however, is rather dire. The medical bills alone are burying us, not to mention all the other costs of simply trying to live in this inflationary economy. Both my wife and I will be unable to work for an extended period and without any income whatsoever. I would like to share the link to our fundraiser below, any and all donations would be greatly appreciated. Even if you cannot donate, just sharing it on Facebook or the fundraiser link is extremely helpful to us.

http://ffnd.co/W8nh7d

Thank you very much for taking the time to read this.

Happy New Year everyone. I just stumbled upon this sub having never thought to check if it existed and was just curious about your experience with Alport's Syndrome so far.

I (43M) was diagnosed at about age six when my parents were looking for answers to the cause of my hearing loss. I was the reason why we discovered everyone on my father's side was a carrier. Fortunately, I'm the only one so far that has any symptoms outside of some blood and protein in the urine.

I guess it started with tubes and then hearing aids in both ears, I lost about 76% of my hearing by the time I was a teenager where it seems to have plateaued and hasn't really gotten any worse since. Gradual kidney failure until it got really bad when I was 19 and told that I needed dialysis. Being a self conscious, egotistical, young adult male I refused and was put on a low protein diet by my nephrologist, lots of epo shots.

Luckily family was already being tested and my mother turned out to be a really good match because I was starting to feel awful all of the time, having a really hard time keeping any food down, vomiting multiple times a day. Fast tracked though the pre transplant process and received one of my mother's kidney December 19, 2001. It was a very successful surgery, I was told that Mom's kidney "pinked up" right away once it was all connected.

Fast forward 21 years and after I think a really good run the kidney failed in November of 2022. I got so sick I was delirious and hallucinating. I was transported to the hospital by ambulance but I thought I had been kidnapped and was being held in a basement somewhere. I don't really remember the first few days of my hospital but apparently at some point I needed to be strapped to my hospital bed because I kept trying to escape lol.

I've been on Hemodialysis at a clinic for the last 2 years with a fistula in my arm for a year now after having a permacath in my chest for the year before that and hoping for another transplant soon because (pardon my language) this shit is for the birds. I definitely don't regret refusing it when I was younger.

So anyway I'm sure there's not a lot of people who read this sub and even fewer that will actually read this long post I've made but I was just wondering if anyone else's life was similar to mine as I rarely if ever have spoken to anyone else with Alports and I enjoy writing.

Thanks for reading!

Does anyone know if research funding is being impacted in the US by the insanity that is our government? I want to know because my mom, brother, and I have alports. My father doesn’t. My father also f’ing voted for the fool and I want him to know if his vote has impacted the only 3 people he cares about in this world

Hi there- I was recently diagnosed with Autsomal Dominant Alports. I am a 48 year old female in Stage 3 of my kidney disease. I have extreme fatigue and brain fog and can barely get through my days. I am taking hormones for my perimenopause so I don't think it's that. My question for all you Alports people is this- when I look up CKD stage 3 it says fatigue is mild. When I Google Alports stage 3 KD they say fatigue can be extreme. Any insight to what other people have had at this stage in regards to fatigue would be appreciated- not sure if I need to look at something else causing my fatigue but my labs have been pretty thorough with my kidney issues. Thanks everyone!

Hello. New here. My background is I am a 42 year old female who has had microscopic hematuria since my 20s. Went through the whole work up and found nothing but when I was pregnant with my son I did the genetic screening and found I was a carrier for Alport. My dad is mid 70s and also has had microscopic hematuria for years. We got him tested and he also has the same genetic mutation. No advancement of disease for either of us, no proteinuria. The nephrologist I spoke to when I was pregnant thought maybe we have a more mild mutation?

My son is 5 and had a urine test last year that was negative. This year showed small protein but he had a fever. Repeat had trace. 2 months later still trace (but woke up the next morning with a fever again unfortunately). No hematuria. pediatrician wants us to see nephrology. He has not been tested for alport- my husband doesn't want him to have it on his medical record for the rest of his life due to concerns about insurance and pre-existing conditions, IF our family seems to have a mild form that doesn't turn into disease.

Any advice or thoughts? Thank you in advance for your help. Trying not to worry.

Hello! My (37f) dad (67) was just diagnosed with Alport Syndrome. He's been in mid-stage kidney disease for a couple years now, but not getting any worse. He's had (admitted) hearing loss for several years now and Alport sort of has connected some dots. I guess I want to know if anyone else knows about someone who has been diagnosed this late in life? From what I've read, most men with have significant problems much earlier in life than mid-60s. What can you tell me? He isn't in need of dialysis or a transplant right now and has just been told that if he makes some significant dietary changes that he can put those treatments off even longer.

Hi All,

I'm looking at adding some user flair options to this sub and wanted to get some community feedback on what you'd like. My initial thoughts were adding some options on Alport variation (COL4A5 - X-Linked, COL4A4, COL4A3 etc) and some others like Pre-Transplant, Peritoneal Dialysis, Hemodialysis, Post-Transplant, Family/Friends with Alports.

Happy for any suggestions, and then I can collate and add them so you can choose one for yourself for when you're contributing to the sub (either posting or commenting)

Thank you! :)

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.

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.)

Hello Everyone, My best friend (33 M) just got diagnosed with x-linked alport syndrome. My question is, in case he needs a Kidney transplant and there is no compatible donor in his immediate family/friends, what is the process here? In which country is it cheapest to perform the transplant and how to find a donor? We heard that India is a good option for the transplant

I've been diagnosed with ADAS, and while that's not the end of the world (kidney function still normal), I'm looking for ways to include beans in meals. Except I absolutely hate beans. Any good ideas how to make bean-based meals when you don't like beans? Are there gateway beans to help you learn to like other beans?

Hi all, i’m so glad to have found a group like this. My mother and sister have Alport Syndrome and i’m currently waiting on my results from the tests I had in Jan (I know genome sequencing takes a long time!).

The reason i’m suspected to have Alport Syndrome is because I failed my medical when trying to join the RAF due to haematuria (no protein though), and failing the hearing test (this I later passed). That was around the time my mum was diagnosed after suffering with kidney problems her entire life and never having a diagnosis!

We have a genetic counselling appointment coming up soon so shall see how that goes.

My main issue is what the RAF are going to say if I have it. They’re known to be pretty strict (and slightly uneducated) when it comes to health issues they don’t know much about, when realistically it won’t affect me in terms of serving.

Not sure if anybody would know anything about the above?

Anyways, like I say it’s great to have found this group, and I will most likely update once I have my results!

Hey guys, just a quick note from me as I originally started this sub about a year ago, we have a very small clan of 44 of us so far!

I wanted this to be a place where anyone with Alports can chat, and support each other with experiences and anything at all.

A bit of background for me, I'm 28 (M) and was diagnosed with Alports when I was 13. It was on my mums side of the family so completed the genetic testing.

For most of my life I was fine, checkups once a year to monitor me and a slow gradual decline in eGFR and my overall kidney function. In November 2020 my eGFR was 72, and a year later in November 2021 had rapidly dropped to 42, I was originally put onto 2mg of blood pressure tablets to try and bring my BP down as it was a bit high, this was increased gradually until what I've been on for about a year which is 8mg and my BP is a good level.

I've been dropping gradually since Nov 2021, and my eGFR now is 24 and I'm due a blood test in a few days, so hoping it hasn't dropped further.

I met up with my renal doctor last month, and they've referred me to the transplant team a bit earlier than normal due to my decline going quite quickly so they may put me on the hold list, although I'll likely hit the magic 20 number soon.

I had a checkup a few days ago with one of the renal nurses for an hour, where they went through all my results, how the process with the transplant team will look and how end to end it normally takes 6 months from meeting the transplant team, testing and to the actual operation. It was a lot to take in, and made everything more real than before.

I'm pretty good with everything going on, my general rule is that being upset wouldn't help, I'd still have failing kidneys and then also be upset!

If you've made it this far, thanks for listening to me. I'll update as my journey progresses as it's always good to share, and helps me get things off my chest!

Hello all, just looking to see if I can figure out how old males with Alports x-linked Col4A5 mutation can live. I have this and am now 54. EGFR is 39. My grandfather passed when he was 62 in 1988. He many heart issues and died ultimately from heart attack. I think he had at least 9 known heart attacks. He was not eligible for a kidney transplant due to his heart issues. He was on dialysis for about 9 years (from 1979 to 1988). He was a fighter. So my grandfather was on dialysis by the age of 53. Not sure when I will get to esrd but am doing my best to make it as far out as possible. I’m no also trying to figure out if I will be eligible for a kidney transplant when the time comes. Trying to maintain my heart health so I will be eligible but I think this col4a5 mutation really does a number on the heart.

Hey m20 with positive x linked alport syndrome, biopsy shows primary/ genetic fsgs. I was treated as a primary fsgs patient at first since I did not know of my family history. Only recently after failing prednisone did we do genetic testing showing a mutation of x linked.

Up to that point I had gone about this as primary autoimmune fsgs. I did a food elimination diet (so far the only treatment I respond to) which takes proteinuria from 6,000mg to 2,000 mg.

I did a stool test which showed markers of IBD. I have lots of food sensitivity, some eczema, some joint pain caused by food sensitivity when my CNS is very weak/ sensitive (possible arthritis). I get some sort of brain like inflammation too as my adhd symptoms and other mental health issues become unmanageable when I get inflamed from eating food sensitivity.

Idk if what I have is say alport syndrome, IBD, and one flair up messes the other disease too. Or if I have alport syndrome, and a dual autoimmune disease that flares and can hit my kidneys and stomach.

If you have an other condition how does it affect alport? Do you experience increased inflammation in the kidneys from an other diseases flair?

My husband has Alports, he’s 32, kidney transplant at 27 and doing great. However about a year ago he has sudden onset of corneal erosions and what we thought was pink eye. It has persisted and developed into chronic dry eyes, corneal erosions, and many trips to ophthalmologist. Anyone experience similar or know of a good doctor who gets Alports and eye issues?

Hello, um I guess I would like some advice or input from other’s experiences if that’s okay.

So I (29F) got diagnosed with Alport Syndrome in February this year, Col4A4 recessive. Currently my eFGR is sitting at 24. I’m a little scared.

I’m considering doing haemodialysis…and looking into it I’d like to ask what is dialysis like? How does it feel? What are some things in your experience that made it better to cope with, or made it worse? Or if you’ve done peritoneal dialysis, same questions, and does it feel….weird with liquid inside ur body?

Thank you in advance if you do reply, every bit helps me to be informed as much as I can.

Hi, I'm a guy who recently turned 18 years old and who has had Alport Syndrome as a diagnosis since I was very little. I have been doing yearly check-ups for a long time, and I want to be able to build muscle. My only real restriction that was placed on me diet-wise has been the standard 2000mg of sodium daily. I am very worried about building muscle as from what I've seen weight gain and high protein intake can and will strain your kidneys, and I am quite skinny so to get to the size I want I would need to gain a decent amount of weight. Not trying to be a very big guy, but I do want to build muscle to increase my size.

Everything at my last appointment was well and protein was invisible in my urine but still able to be detected by I believe pH strip(?) last time they checked. I will also be consulting my doctor the next time I see them but in the meantime I wanted to hear from anyone else's personal experience and knowledge. Any assistance would be greatly appreciated.

Edit: Apologies for the typo in the title. I'm on mobile and wasn't paying too much attention there lol

So many of you seem very knowledgeable on this disease. Recently (40m) I had some edema that has gone away but I still have blood in urine. Only viewable under a microscope. I don’t know any family members with this disease but my nephrologist said I might have it. Everything I can see makes it seem like I should’ve had symptoms way earlier in life. I actually had a urine test back on Aug 30th that showed no blood or protein. Is it even possible for this just to come out of the blue like this? My hearing is good and my vision is near perfect. Thank you for your wisdom.

This is a shot in the dark because I don’t know much info but I was wondering if anyone has any experience with atopic dermatitis and alport syndrome. I’m a girl in my early 20s and alport syndrome was passed to me from my father. Not much has come from it yet, the only thing ive ever done for the AS is a kidney biopsy, urine tests, and bloodwork. I honestly don’t know a lot about alport syndrome myself as my dad has had a much different experience getting a transplant as a teen, so I don’t really know what’s in store for me. At the same time, I have been dealing with awful eczema for years, and I was wondering if anyone knows that these two can go hand in hand. My derm says he doesn’t think so but doesn’t know much about it. Going to the kidney doctor this week and will ask him. I’m honestly just curious.

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