alport uk

questions & answers

Listed below are a few questions and answers on a whole range of topics that were discussed at our latest Alport Information Day in Birmingham.

Introduction to Alport Syndrome – Dr David Milford – Birmingham Childrens Hospital

Q – Is there any way that changes in life style can prolong the life of a kidney? What about drinking more, or less water etc

A –  It is important to adopt a healthy life style as promoted by national bodies – this includes taking regular exercise, avoiding excess weight gain, avoiding a diet high in salt and avoiding smoking.

Q –Can you talk about ACE Inhibitors?

A – ACE inhibitors reduce blood pressure within the kidney’s blood vessels which can, over time, reduce the wear and tear experienced by the kidney filters (glomeruli).

Q – If you already have relatively low blood pressure, should you be taking ACE inhibitors? I have low blood pressure and I was advised not to take them because I would be passing out all the time.

A – If you already have symptoms of low blood pressure, we would reduce the dose but also monitor the urine protein.

Q – What is the difference between ACE Inhibitors and ARBS for someone with low blood pressure like me?

A – AN ACE inhibitor is an angiotensin-converting-enzyme inhibitor. ARBS are Angiotensin II receptor blockers, so both drugs are acting on the same chemical pathway. For someone like you, with low blood pressure symptoms, they can be regarded as the same.  However, there may be a difference in the action of different drugs, even if they work in a similar way, so it is often worth trying different drugs in the same class to see if the side effect profile is more tolerable.

Q – How much are ACE Inhibitors used by clinicians?

A – They are widely used for a variety of patients including those with high blood pressure problems as well as patients with protein in the urine.

Q – How safe are they?

A – They are effective and safe and have been used for a relatively long time so their safety has been extensively studied. They are a kind of ‘wonder’ drug.

Q – Do people with Alport Syndrome have more bladder and UTI infections? I have Alport Syndrome and I am often on antibiotics to control bladder infections.

A – Bladder and UTI infections are very common. It may just co-incidence.

Q – Should women stop taking ACE Inhibitors if they want to become pregnant?

A –  If you are at low risk, I would advise coming off them during pregnancy because ACE inhibitors prevent an enzyme from producing the hormone angiotensin II and this hormone plays an important role in the developing kidney. But if you are high risk and you may be off ACE inhibitors for a long time while you try to get pregnant, it is important to weigh the small risk to the baby against a possible detrimental effect to the mother’s health. This requires careful discussion with your kidney specialist because the most important thing for a healthy baby is a healthy mother.

Q – My son has Alport Syndrome and relatively normal kidney function at the moment but would you advise starting to take ACE Inhibitors?

A – My recommendation would be to start because there is increasing evidence that ACE Inhibitors are beneficial even when a person only has a small amount of protein in the urine. But it may be a difficult choice because it is a life long commitment and some parents are concerned about starting an otherwise healthy young child on medication.

Q – Are there any side effects?

A – Some ACE inhibitors can cause a cough; also, as these are blood pressure lowering drugs some individuals may experience symptoms of low blood pressure. But the drug companies wouldn’t be so successful if there were bad side effects as the drugs have to be taken life-long.

Q – If you get a diarrhoea and vomiting bug, and there is a risk of dehydration, should you stop taking ACE Inhibitors?

A – Yes. Dehydration can affect the kidneys by causing low blood pressure so you should stop using ACE Inhibitors until the D & V has passed.

Q – Is it possible to monitor your blood and urine test results in order to be able to show your ‘numbers’ to doctors who haven’t seen you before?

A – Yes and I encourage you to know your numbers. It is important for doctors to know them, especially when dealing with any other infections or injuries you might have.

Q – Are there any painkillers that people with Alport Syndrome should avoid?

A – Yes. Ibuprofen is commonly used instead of Paracetamol as a painkiller or to reduce fever and belongs to a group of drugs called Non-Steroidal Anti Inflammatory Drugs (NSAIDs for short).  These drugs can interfere with a protective mechanism in the kidney that is important during episodes of dehydration or low blood pressure.  Any individual with a kidney problem should avoid these drugs at times when they may be dehydrated (such as with D & V or when they have a fever).  Paracetamol is a perfectly safe alternative at these times.


Genetics 100,000 Genome project and family planning – Prof Frances Flinter – Consultant in Clinical Genetics and Caldicott Guardian Guys and St Thomas NHS Foundation Trust


Q – I’ve always understood that the initial occurrence of Alport Syndrome is spontaneous. Is there any research into what triggers the Alport Syndrome gene mutation? Is this similar to the way that cancer occurs?

A – 85% of people have inherited Alport Syndrome and 15% have the condition as the result of a spontaneous new gene mutation.  There is no evidence for an environmental trigger. The mutation happens when the genes are copied from parent to child and mistakes occur. Cancers are different. Most cancers are the result of a local mutation in the tissue involved and not something you can pass on.

Q – I was diagnosed with Alport Syndrome last year – no one else in my family has it. Is it possible to have Alport Syndrome and not know?

A – People with Alport Syndrome are born with the condition, but they may not be aware of any symptoms for a number of years. Until recently, patients were only diagnosed if they had a kidney biopsy or a positive family history. Now many people whom we suspect of having Alport Syndrome go straight to genetic testing and don’t need the kidney biopsy first.

Q – My husband and I are both carriers. What chance is there that my affected daughter might meet a man who also has the Alport Syndrome mutation?

A – The carrier rate in the general population is very low, so if a future partner doesn’t have a family history of Alport Syndrome, his chance of being a carrier is very small. Furthermore, your daughter would only be at risk of having a child with Alport Syndrome if her future partner was a carrier of a mutation in the same gene as her mutations.

Q – Can you predict the age that a patient will be affected?

A – Not really. As small children affected individual usually have blood in their urine, but this may only be visible when they have an infection such as a cough or cold. The rate at which more significant features become apparent varies quite a lot, and can be significantly modified by the early prescription of ACE inhibitors.

Q – Does genetic testing also show when the carriers will get symptoms?

A – No. For carriers of X-linked Alport Syndrome it depends more on which of the mother’s X chromosomes is inactivated.

Q – So females in the same family – would you expect them to carry the same mutation?

A – Yes.

Q – Why don’t geneticists do population screening?

A – Because it would not be helpful and would generate information that we cannot interpret. If you sequence the Alport Syndrome genes in someone who does not have a family history of renal disease you will always find a large number of variants, because we all carry variants in every gene (and we each have around 25,000 genes). The vast majority of these variants do not affect the genes’ ability to function properly, but it can be very difficult to interpret the significance of individual variants if they have never been reported before. It is much better to concentrate on systematically screening close relatives of people who are definitely affected, and whose genetic mutation(s) is known.


Patient story – Angela Dennis

Q – How does Alport Syndrome affect university life? My son is at that age where he might have kidney failure. He wants to be a pilot.

A – I think that is a bit about choice. You do have a choice still – if you have your heart set on something, you can do it. I was lucky; I was 30 before I had my transplant. I’d got through education and university and established a career as a lawyer. Sometimes I think I was luckier than my sister and got the transplant out of the way and went on to have two children. Everyone has his or her own problems. It might take patients a bit longer to get there but there is no reason not to do anything.

Q – Did you get your husband tested?

A – We were seen in Germany but they didn’t test him. They thought that the chance of my husband having it was so small and besides, he could have had all sorts of other things!

Q – Has treatment improved during your lifetime?

A – Well Professor White (who my sister and I saw at the Children’s Hospital in Birmingham) monitors carriers but we weren’t typical carriers, we are more like male patients manifesting the symptoms. Later on, when I went to St Georges Hospital in London, they told me to take ACE Inhibitors but never really explained why. The main thing is that if you are seeing someone in the medical world who doesn’t understand, don’t be afraid to push the pressure points.

Q – My brother is due to start dialysis shortly and he feels poorly most of the time. You seem quite cheery now. How much does dialysis help to improve the way you feel?

A – My Mum says that she has seen me tired. I used to have a nap in the middle of the day when I was on the waiting list for dialysis and that definitely improved. But I am quite stubborn and carried on anyway. My kidney decline was slow enough so I just adjusted to what was normal.

Q – You said you’ve been on both types of dialysis. What is the difference?

A – One you can do yourself. I did it overnight. In the day I could go about normally. The other one involves you going into a dialysis unit but it gives you a bigger interval, more time between dialysing.

Q – What about holidays?

A – I love holidays. There are schemes set up for this. I was working hard and I needed holidays to look forward to. We went to France and we went on a cruise. You can still go on holiday. It is important to do normal things because when you feel normal you can deal with the other stuff and there are charity funds to help you achieve this now.


Hearing and hearing aids – Dr Sudhira Ratnayake – Consultant in Audiovestibular Medicine Royal Wolverhampton NHS Trust


Q – Could you talk about the degree of hearing loss in? My oldest son has become severely deaf in the last six months.

A – The degree of hearing loss in could be variable and may get worse to a moderate to severe degree. Usually, some hearing will remain. Therefore, hearing aid use is important on a daily basis. In rare situations it can become profound and require more powerful hearing aids or cochlear implants. If the hearing is rapidly deteriorating, it is important to be seen by an appropriate clinician to rule out other causes of progressive hearing loss.

Q – Is there a chance that my hearing loss is going to progress further because I am a woman?

A – There is no direct evidence to say that there is a higher chance for hearing loss to get worse in women with Alport Syndrome. Hearing loss in is commonly seen in males. It typically happens earlier in life for males than for females. The more important issue is that progression of hearing loss may suggest poor prognosis of renal disease.

Q – Is there any link to feelings of vertigo?

A – Vertigo and balance problems are not typically known in Alport Syndrome. Both the hearing and balance organs are closely situated in the inner ear. If there are vertigo features, it is important that this is assessed properly by a clinician. Just like for hearing, there are specialised balance tests to check the inner ear balance organ function.


Hearing, classroom challenges and solutions – Alison Holmans

Q – Our son now wears radio aids in school but it took us 12 months to get them. In that time he fell behind with school because he couldn’t hear. How would you suggest speeding up the process and making schools aware?

A –We use a calibrated assessment tool called ‘The Parrot’ to get an accurate aural picture of what the child hears. This highlights the need for ‘radio’ and its benefits both to the child and to the teachers. The Audiology Department at your local hospital, should supply and maintain the hearing aids or cochlear Implants. Your son’s Teacher of the Deaf can verify the need to have a ‘radio’ system at the school.

Plan ahead so that you are not in the position of waiting until the child has difficulty before you introduce radio. Money covering the cost of any equipment or adaptations comes from a government budget called ‘Access funding’. (For children in independent schools, equipment and Teacher of the Deaf support has to be brought in.)

Q – Should we take the radio aids through from this school to his secondary school or do they provide them? If we provide them, we have to maintain them.

A –The Teacher of the Deaf should ensure that the next school has signed a school service agreement and that it is provided with guidance hand-outs for INSET. It would be a good idea to suggest that you as a family could charge up the system and check it.  In this way the Teacher of the Deaf will know it is working every day. If you find a problem you can get in touch for spares and repairs.

Q – In our experience the teachers don’t seem to know what to do, we have to educate them. Everything is a battle but as soon as our son got the hearing aids, there was a total transformation. How can we make the school better informed on hearing in classrooms?

A- Use your Teacher of the Deaf to provide INSET and on-going training for the other teaching staff. Link directly with the Head Teacher to find out who is responsible. His Teacher of the Deaf should ensure there are links with SENCO and with his form tutor.

Q – I am a single mother. I have Alport Syndrome but my son doesn’t. I am the deaf one. My son is fully hearing and is 2 years old. Do you have any ideas about how I would be able to hear him and pick up on his language?  Do you have any techniques to help him to wake me up if he needs me at night when I have taken my hearing aids out?

A – Regarding daytime use, you could use a radio system in reverse. If he has the transmitter and you have the receivers.  You will have to consider a robust system, possibly one with a lapel microphone so it can be put under his clothes safely. Social Services should be able to provide this for you. It would be lovely to pick up his voice and be able to respond and encourage his language.

The night time question is more difficult to answer. I wonder if there is a way of connecting to a vibrating alarm (voice activated) if he cries.  Pose the question to Connevans  and see if they have thought of a solution. There may be something out there.


Eyes – Dr Omar Mahroo –  Academic Clinical Lecturer, Ophthalmology. King’s College London

Q – How much notice do you need for testing patients at your London research clinic?

A – The more notice the better, but feel free to get in touch anyway, as it may be possible to fit you in at very short notice.

Q – Are there any other centres that can get information and send it to you?

A  – There are ethical issues surrounding sending data between doctors in different centres so it is easier if we take the pictures, but we will look into opening up more centres in the future.


Clinical trials and registry – Neil Turner – University of Edinburgh

Q – Will each individual need to sign to register with the Athena study?

A – Yes. If you have any difficulty registering through your doctor, tell us. The registration has to come through your renal unit though.

Q – We signed up to PatientView quite a few months ago but we have never been sent any information about it.

A – That is almost certainly a problem with your local unit.

Q – Do you want Alport Syndrome carriers on your system as well?

A – Yes!  But in order to get a carrier into the system they need to have been to a kidney unit at least once. Anyone developing proteinuria should probably be known to a kidney unit anyway.

Q – Can under 16 year olds be registered?

A – Yes but they can’t be part of the Athena study.

Q – I might have put my name on the register but I can’t remember. Is there any way of checking?

A – Yes! speak to me. Or to the PatientView admin at your local unit.


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