Kidney function was commonly talked about as Alport Syndrome is characterised by progressive loss of kidney function. Michael X felt that “it's the renal failure that affects family life to a devastating degree”. This varied considerably among those we interviewed. Jayne and Michelle have no or few symptoms and their kidney function is deemed normal. Deborah, Lucy and Emma have very few symptoms and their kidney function is managed by blood pressure medication. Similarly Patrick who has lost some of his hearing, says that his medication “decreases pressure” on his kidneys. He hopes to avoid dialysis although says that having a transplant is “pretty certain” in the future. Several people had transplanted kidneys. Cynthia was on her third transplant and one of her kidneys had lasted twenty years.
Professor Neil Turner explains how Alport Syndrome affects the kidneys.
Professor Neil Turner explains how Alport Syndrome affects the kidneys.
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So patients with Alport syndrome, like most other kidney diseases, are completely unaware that there's anything happening in their kidneys until quite late on. Some of them notice - or their parents notice - blood in the urine, when they're babies. But really you wouldn't know anything was going on after that time, unless you did tests of urine or of kidney function. And for people with severe Alport syndrome, their kidney function gradually deteriorates. So that typically, people with severe Alports would be getting into serious kidney trouble in their late teens or twenties without treatment. Fortunately, that's getting a bit later now. In addition to that, there are people who carry the Alport gene. And carriers is maybe not the best term, because quite a few of those people in their lifetime do get kidney disease. Maybe up to a third of them, max. So, most of them are fine. Those people may also get abnormalities of their, in their urine and kidney function, as the years go by. But on the whole are less severely affected.
Professor Neil Turner explains how a diagnosis is often made.
Professor Neil Turner explains how a diagnosis is often made.
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And how would you diagnose somebody with Alport syndrome? What sort of tests would you conduct?
So usually - again, I'm talking about the people with severe Alport syndrome. Usually the doctors are going to suspect it, because the patients are often complaining of deafness, or someone else in the family has had a disease in which deafness was associated with kidney failure. In reality there are quite a few conditions that can cause deafness and kidney failure. But that would certainly raise suspicion. In the past, most of the diagnoses have been made by doing a kidney biopsy and examining it under the microscope. Increasingly it's now becoming possible to do that with genetic testing. And that's probably going to get better in the future.
Some people had experienced tests on their kidney such as a biopsy or ultrasound. Michelle’s daughter had a kidney biopsy and blood tests, and Alan had a biopsy when he was three years old. Alison had a kidney biopsy which indicated she was in the early stages of renal failure. Sometimes a biopsy led to a diagnosis of Alport Syndrome.
Angela recalls having a biopsy at the age of nine.
Angela recalls having a biopsy at the age of nine.
Age at interview: 40
Sex: Female
Age at diagnosis: 10
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I was quite young. I was only 11. My sister's two years younger, so she would have been 9. Well, eighteen months. So 9, 10, depending on - I can't remember what time of year it was. We both went to the children's hospital. I don't remember it being particularly a big deal. Went to the children's hospital. We had a room for just the two of us, so I think we must have thought it was quite exciting [laughing] that we had a room with a TV. And we could watch what we wanted on the TV. And then they just took you into theatre and sedated you slightly and then did the biopsy. The only thing I remember at the time being disconcerted - 11 year old - is they tried to put a cannula in my hand. And for some reason it didn't go properly. And so blood started coming out. And I didn't really understand as an 11 year old what was going on. So I remember being slightly perturbed by that. But otherwise not that bothered. I've actually had a biopsy since my transplant as well, which was - nowadays, they're very like - especially if you're a transplant patient, they're very - done in a very low key way. I was actually just in the clinic just after I'd had my transplant and had potentially a bit of rejection. Which is not so much of an issue nowadays, they can manage it, and it didn't turn out to be a problem for me. But they just kind of stick you on a bed and then kind of like did the biopsy and that's it.
Sarah says she remembers having a kidney ultrasound which was weird.
Sarah says she remembers having a kidney ultrasound which was weird.
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Which I just remembered, because they were doing it when they were - like just after the diagnosis, I think. I had an ultrasound on my kidneys and I had to like drink something, and see how it went through and stuff.
How was that? Was that in the local hospital, or?
Yeah, I think so. It was weird having an ultrasound. Because obviously you think pregnancy when you hear ultrasound [laugh]. But it was, it was alright.
And what did they exactly do?
I think I had to drink something, and then I lay down and they had an ultrasound thing which they checked my kidneys with. And they were like "okay no, everything looks fine." And I was like "Okay, then." Think I was still quite young at this point, so it was a bit weird, but.
Yeah, do you remember what age you were?
I think I was 14 when that happened.
Amanda describes her experience of having a kidney biopsy as horrific.
Amanda describes her experience of having a kidney biopsy as horrific.
Age at interview: 39
Sex: Female
Age at diagnosis: 33
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Basically they lie you flat on a bed. You're facing down on a bed. At that point, the very first time that I got my biopsy, my blood sugars had dropped, so I actually thought I was - I got very hot, and felt very dizzy. I'm not great with needles, I've got a needle phobia anyway. I have got a bit better over the years, but I didn't really know what the biopsy entailed. So I was in this kind of like dark, darkened room, with everybody all around the bed, and lying flat. And obviously I'd got myself maybe worked up into a state, and before you know it, they had to tip the bed, and - you know - try and put my head down, and get a cannula in me, to get some fluids in me. So it was a bit of a [makes a whooshing sound], the first time around. But they do freeze the area obviously, that they're - the kidney - that they're going into through the back. But it's not, it's not a nice procedure. Obviously they are putting a needle through your back into the kidney, to take a sample of it, to send it away as a specimen. And then obviously once you're, you've went through that procedure, then back into the ward, and you're lying in your bed for 24 hours and you're not allowed to move. It's obviously to try and reduce the risks of losing the kidney. Because if you're going in doing this to the kidney, then there's the chance, there is a risk of losing it*. So you're not allowed to move for 24 hours. And that was horrific.
So you're on your front?
You're allowed to lie on your back, but you're not allowed out.* And basically if you need to go to the toilet, you need to use a bed pan. Which, if anybody has ever experienced, is horrific [laughing]. And I, the - I think it was the second time around, I just couldn't, couldn't do it on the bed pan, it just didn't feel natural at all. And I was in absolute agony. And I said to them, "Please, can you let me out? Please. I'll be quick as possible." And they says "You're putting yourself at risk." And I says "I can't do it, and I'm in agony." So eventually they let me out, and I went on a commode and got back in. And it was like 'thank goodness for that'. But I didn't realise obviously, I was in a wee bit of pain after it as well, and I says to them "Is there, can I get any pain relief?" And I didn't realise at that point that I was, I had a, and allergy to codeine. So they had obviously gave me some codeine, and then next minute I'm vomiting rings. So you can imagine, you're trying to be sick and not move at the same time [laughing]. Wasn't very pleasant. So, and the outcome of that, I now realise that I'm allergic to codeine, and I can't take it [laughing]. So, yeah. It's, it's not a nice experience going through that. And it was quite scary, because I was in obviously a renal ward. I was in next to people that were on dialysis machines. And you're sitting there thinking 'is this what my future holds?' And you were able to, you know - you were seeing all the wires and the machines working. And obviously it's saving these people's lives, these machines, and what a great job it obviously does for them. But I just - 'oh, please, don't let me ever need this'. But it could be. That's how things could go. And then it then made me think 'this is what my son is gonna have to go through'. Which is not a nice thing to think about. Three times a week. Or if it's the home one, every night he's gonna be into a machine. So that, that kind of - things, when you went to hospital to get investigations, or if you went to your appointments and you see somebody who's in the process of all these things, it does bring it to life to you then, and you realise how scary it actually is.
*There is a very small risk of bleeding after a biopsy which is why doctors recommend lying for 4-6 hrs after a biopsy to reduce this risk.
The people who had experienced significant loss of kidney function and renal failure described this in different ways. For Diane, it was a “slow downhill” so she didn’t notice a dramatic shift in her health. Richard Y was diagnosed with Alport Syndrome in his early 20s but it came as a massive shock to be told he had renal failure ten years later because he had been told that it would be much later. Cynthia said she experienced renal failure when she was twenty four and had only been married six months.
Angela remembers seeing her kidney function plotted on a graph and the line going downwards.
Angela remembers seeing her kidney function plotted on a graph and the line going downwards.
Age at interview: 40
Sex: Female
Age at diagnosis: 10
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I think - well, I remember [laughing] going to one of my appointments at [hospital], and they had plotted my kidney function on a graph. And the line was kind of going like that, downwards. I thought, I was just thinking 'well that's not good' [laughing].
It was actually quite late in the stage that they actually kind of, that they actually tell you. I mean, there actually - there is a level below which they class you as being in kidney failure. I'm not sure when - I don't ever remember a moment when they turned round and said "You have kidney failure."
I suppose even when I knew I was having a transplant, when he was going to donate his kidney, I thought it was going to be a very - almost we could carry on, as before. It wasn't really going to affect anything, we'd just go in, have a transplant [laughing]. And then suddenly it was like "Oh no, you can't have a transplant." And I was like - that was probably the first time that I was sort of shocked. Well, I'd say there was actually - there was a period when I found out I was going to have kidney failure that I thought 'what does that mean?' I didn't know anything about it. And then when - it was almost like my husband was the solution. And that when that kind of fell through, I was then like 'oh'. And I hadn't really looked into dialysis, and really understood that very much. And it was very sort of "Well now, because we're going to transplant you, you're now at the point where you need dialysis. So you need to make decisions quite quickly about what you want to do. In terms of what dialysis you want. And we need to book you an appointment to have the equipment put in, and you're having CAPD we need a fistula, or." And so that was all a bit like a bit of a surprise. And a rush at the time.
Karen says even though she knew her kidneys would fail, she still felt gobsmacked when it happened.
Karen says even though she knew her kidneys would fail, she still felt gobsmacked when it happened.
Age at interview: 42
Sex: Female
Age at diagnosis: 33
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Yeah it's quite a short space of time as well so. But I did have that advanced notice that it would happen eventually. You know from being twenty four I knew eventually my kidneys would fail, but because they'd been so steady for kind of eighteen years in effect, that when I went on the, in the December 2013 and was told that they'd dropped, I was really kind of gobsmacked, and it took me quite a long time to recover from that information because I just expected them to say, "Oh you're still at twenty or eighteen or whatever, you know just carry on doing what you're doing," and that’s it. And when I went in and they said, looked at my blood results and went, "Oh," you know, "they're failing," and within -. It had reduced to be fair for those eighteen years I was in a bit of a no man's land because I couldn’t go on the transplant list or get any kind of treatment in terms of dialysis, but I still felt rotten because my kidneys were so, so low you know. It dropped to, it dropped to fourteen which meant I could trigger onto the transplant list but then once it went to fourteen it just dropped really fast. So, that’s why kind of three months later I was on dialysis so.
Dee felt shocked when her kidney function dropped.
Dee felt shocked when her kidney function dropped.
Age at interview: 51
Sex: Female
Age at diagnosis: 48
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I was really shocked. I thought 'gosh, I should be - shouldn't, shouldn't I be ill?' You know? I thought well 'wow, that's really strange'. But then they explained to me that it's like - you know - it's a thing that creeps up on you, sort of thing. Flippin' heck. And it's "But we don't know how it's gonna change, it could stay at eleven for the next two, three years." They said, "But, you know." I was like "Oh, right." And it was just a case of checking. So I went back three months later, and it dropped. And then three months after that it was the same. And three months after that it had dropped again. And then I went back again, and they said "Right, we're gonna have to start looking towards dialysis now." And then I went back again three months after that, and it had gone right down to seven. So they said "Right, need to go and have the catheter put in now." And that was the worst part about it, I must admit, because that was the unknown. Talking about it and being told about something, it's just information you're taking in, isn't it. But that was like an operation, and I was a bit dubious. Because I'd seen the pictures online, and when you have a tube sticking out of you, it's - I don't know, it's just - I thought it would be painful, it would be awkward, it'd be everything, and it wasn't. You know? They put it in and I was like 'oh, you big silly devil', anyway. You know? I wasn't really making a fuss to anybody else, just to myself. And I was like [sigh]. And now, just like a spare part of me. You know what I mean? I don't even think about it. And it's just there.
Some people had symptoms leading up to their kidney failure. When Robin was on a business trip he became very unwell, dehydrated and could barely walk. It was then that doctors discovered he was in the late stages of renal failure. Steve says that he put down the tiredness and cramps he had been experiencing to having a new-born baby, when in fact he had renal failure with six percent kidney function. Dee said that she hadn’t really experienced many symptoms leading up to her renal failure, aside from tiredness. Others reported being sick due to high levels of toxins and urea in their system.
Kevin was sick most mornings which was a sign his kidneys were failing.
Kevin was sick most mornings which was a sign his kidneys were failing.
Age at interview: 42
Sex: Male
Age at diagnosis: 6
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Essentially, the - because the kidneys were, had very little function at that point, my body was just basically [laugh] having a really sort of bad reaction. So yeah, I was, I was sick most mornings. And yeah, I couldn't really get going in a morning until I'd sort of vomited the contents of my stomach out. Which, yeah looking back was pretty unpleasant. But it's strange what you get used to. So yeah, you just kind of - you think it's normal until somebody really points it out and says that's not normal [laughing]. So yeah, so that was the first thing I remember being - and the reason I was doing that is because I wasn't sleeping particularly well. And, and so the toxicity was, was quite high at that point. And my kidneys just weren't processing what they needed to do. So it had to react some way, and unfortunately that was the way I was reacting.
Diane says it wasn’t until her transplant that she realised how ill she had been feeling.
Diane says it wasn’t until her transplant that she realised how ill she had been feeling.
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I mean, even when we went to the doctors - I don't remember. I mean, I think it's because it's sort of quite a slow decline, I didn't really notice. It was only after I got - I think when I got near the end, just before we had the transplant, that I realised that, you know [laughing], finding everything really difficult. Really tired all the time. And out of breath. But it wasn't until I had the transplant, and I started to get better, that I realised how ill I'd been feeling.
Because it's just such a slow downhill, I just didn't really notice.
Richard X got seriously ill when his first kidney was rejected and his kidney function was very low.
Richard X got seriously ill when his first kidney was rejected and his kidney function was very low.
Age at interview: 39
Sex: Male
Age at diagnosis: 9
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Well after that unfortunately it got to the stage where my kidney was being rejected but there’s a certain level where you, they put you on the waiting list when it gets to a certain level and that level is where you’re in end stage renal failure. Unfortunately I think it affects different, high creatinine or whatever goes with having a high creatinine affects people in different ways and my measure, my figure was fairly low so the amount it was affecting me the figure was quite low compared to some people. So they were still using this measure to say right when, when you get to this stage you’re gonna go onto the waiting list and then we’ll put you on dialysis as well. But actually it turns out I was much more ill than I should have, well than in a text book perhaps I would have been at that stage to the point where I ended up having I collapsed on the kitchen floor and had about, it was about three days of not non-stop but I was, I was almost unconscious for that long. I had seizures for the whole three days on and off and I was just completely I lost three days of my life.
Oh my God.
So yeah, I mean it was a horrible, horrible experience. before that I’d had, I’ve always suffered with migraines and I started getting these really horrendous migraines, really bad migraines and it was obviously all linked to it and my blood pressure was something like, it was over, heaven knows the figures but it was about 210 over 160, something like that which is just about double what it should be.
And so I got something called Urinia [uraemia] which is where your blood is basically poison because my kidney wasn’t working properly and my blood pressure was awful and my blood was poisoned so that was obviously going into my brain and ended up having these fits. And I ended up in [Hospital name] and eventually after, after that episode they put me on, straight on dialysis which I really needed.
People said that their kidney function could be affected when they were ill with a virus or cold and they sometimes noticed more blood in their urine. Amanda said when her son was unwell recently, his urine sample results changed and kidney function dropped and returned back to normal when he was better. Debra was told that she had a risk of losing some kidney function during pregnancy which may or may not return. When Donna contracted Hepatitis E her kidney function dropped to 30%. She believes that leading a healthy lifestyle has helped to increase her kidney function back up to fifty percent. For Karen, getting ill with pancreatitis sped up her kidney failure.
People described their kidney function in percentages, or sometimes referred to their eGFR or creatinine levels (estimated glomerular filtration rate and creatinine levels in the blood both indicate kidney function). Classifications usually used by doctors now are based on Chronic Kidney Disease staging (CKD 1-5) with CKD 5 being referred to as end stage kidney disease. Amanda said her kidney function was “sitting at 30%” whilst her son’s is at 70-80%. Debra’s kidney function was “about 67%, normally” which the doctors told her most of, “the general public could be functioning at about.” People often spoke about their kidney function in relation to dialysis and transplantation. Diane said her kidney function was 10% before her transplant. For Richard Y his kidney function was 8% before dialysis. Dee’s was 7% before dialysis which is CKD 5.
Alison explains how her creatinine and eGFR levels changed after her transplant.
Alison explains how her creatinine and eGFR levels changed after her transplant.
Age at interview: 33
Sex: Female
Age at diagnosis: 20
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So creatinine is what they measure in your blood that determines how well your kidneys are functioning. So before I was called for the transplant, my creatinine was way up at one thousand two hundred. And now, just over a year after the transplant it's gone down to ninety. And it has been sitting around about ninety for about a year. And the overall kidney function, which is what they call eGFR, that had dropped to four, and now is sitting at over sixty, which is what they would see in a person without any kidney problems. Yeah. No, it's all good.
When Robin’s kidney transplant began to fail, his results were heading down but he felt it was carefully managed.
When Robin’s kidney transplant began to fail, his results were heading down but he felt it was carefully managed.
Age at interview: 62
Sex: Male
Age at diagnosis: 26
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I don’t have a lot of recollection of that. But I think because it was, it was much more carefully managed medically. There wasn’t, you know, they could see from the results. They were getting more frequent blood test results that things were heading down. It was much easier to prepare for it and I knew what was coming. So I just wasn’t just going off a cliff and becoming extremely ill. It was much more carefully managed. So apart from probably slowing up a bit and just generally not feeling great but just being more tired. It was more carefully managed. It wasn’t the sort of overall traumatic grinding to a halt trauma and all the rest of it that came from the first time around. Again they were able to manage the type of, set things up so I could have this operation for personal dialysis ahead of time. So when it was necessary to go I could start doing it straight away without having to be in hospital and all the rest of it. So maybe being in a day or two for the operation and then kicking straight off as the kidney started to fail.
People spoke about how they tried to extend the life of their kidneys through having a healthy lifestyle or diet. Donna, Jago and Wilf all felt that sport and diet were very important in helping their kidney function. Steve said he looked after himself and also didn’t drink alcohol anymore. Sarah and Katie mentioned that doctors had said to avoid putting pressure on their kidneys and avoid activities like deep sea diving. Kevin wondered whether the appointments he missed when he was in his 20s might have given him more information about his declining kidney function, and whether this knowledge might have “bought me a year”. People also spoke about hope for future research and medical advances, in particular the development of artificial kidneys.
Professor Neil Turner discusses gene therapy for Alport Syndrome and bionic kidneys.
Professor Neil Turner discusses gene therapy for Alport Syndrome and bionic kidneys.
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One of the difficulties with - it's a genetic disease. So the obvious thing is to think well can we do gene therapy for it? Gene therapy is now becoming possible for some genetic diseases, but they tend to be diseases where the, the trouble is easy to get at. So diseases in the bone marrow are the ones that have been subjected to the first successful gene therapy treatments. The cells in the kidney that produce the GBM, the filtration membrane which is abnormal in Alports are really difficult to get to. The kidney is a really complex structure. And these cells are tucked way, way inside it. Many years ago there was an attempt to do gene therapy in pigs, actually. With the intention of trying to treat Alport syndrome. And they got part of the way there. It looks really hard. It seems quite unlikely that we can - in the next few years - go in there and correct the gene defect in those cells. On the other hand, there may be ways to alter the proteins that they produce. But I think it's gonna take quite a bit more work to be sure that we can do that safely and effectively. And so that's probably a little bit further off than I know many people would hope.
And what about sort of bionic kidneys, and that sort of development?
Yes. Dialysis hasn't changed much, so haemodialysis as it was invented fifty years ago - more than fifty years ago. Or, fifty years ago it was used for people with chronic kidney disease. It's, it's pretty much the same. And a lot of people have wondered whether you could make it much smarter. Peritoneal dialysis is in a way smarter, it takes place inside your body, there's much less artificial stuff going on. But it, it hasn't lived out its vision as a, as a permanent treatment. It's a really good treatment for a time for many, many people. The concept of the artificial kidney that you might make in a box and put inside people and then never see. There are some experiments going on around that now. My prediction is that there's going to be an awful lot more research needed before that becomes much better and safer than the treatments we have now. And let's not forget, they're doing a really good job. They're keeping, in the UK, well we have - I think we have sixty thousand people alive with dialysis and transplantation, and about half of them are on dialysis. So these treatments are doing really well. These new things coming along will have to prove themselves to be really safe and manageable, and work in the long term, for them to take the place of these others. Of course we all hope that these things that make dialysis simpler and easier to cope with will come along. But I don't think we're quite there with them yet.
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