Reviewed November 2020 Page 1

Prevent, Detect, Support, Research.

Fact sheet Alport Syndrome

What is alport syndrome?

Alport syndrome is a genetic (inherited) Your body is held together by able to do their filtering job properly. disease of the kidneys which can also connective tissue. This connective In Alport syndrome the in the lead to problems with your hearing tissue is made up of collagen. The glomerulus is affected. Your kidneys and eyes. It affects at least 1 in 5,000 collagen known as type IV collagen become weak and damaged, and the people. Males are usually more severely is in the filtering part of your kidneys amount of waste that is filtered from affected than females. called the glomerulus. This collagen is your blood is reduced. needed to make sure your kidneys are

How is alport syndrome inherited?

Genes are a part of chromosomes, The most common way that Alport Please see the Alport Foundation which you inherit from your parents. syndrome is inherited is by a mutated website www.alport.org.au for more If you are female you have two X gene carried on your . detailed information about how Alport chromosomes, while if you are a man This is called X Linked Alport syndrome. syndrome is inherited. you have an X and Y chromosome. It accounts for around 80 percent There are many genes located on the of people with Alport syndrome. X chromosome, but only a few on the Other types of Alport syndrome are Y chromosome. called Autosomal Dominant Alport Syndrome and Autosomal Recessive Sometimes, a gene contains a Alport Syndrome. variation – like a spelling mistake – that stops it working like it is meant to. It is possible to be a ‘carrier’ of the A variation can also happen with no Alport gene. This means that you known cause. Variations in the coding have the faulty gene on one of your that make a gene not work properly X chromosomes but you do not (faulty) are called and can have Alport syndrome itself. You can lead to a wide range of conditions. still pass the Alport gene on to your children.

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How is alport syndrome diagnosed?

If you, or someone in your family has Unless there is a known family history been diagnosed with Alport syndrome, of Alport syndrome, a diagnosis may it is important for all family members not be made until kidney, hearing to also be checked for the condition. or eye problems develop. It is very This may involve a urine test to look important for young males with for small amounts of blood. A test to have their kidney called a kidney biopsy may also be function checked, as hearing recommended. This is a fairly simple problems usually show much earlier process where some kidney cells than kidney problems. are removed to look for changes. Further genetic testing may also be needed before the diagnosis of Alport syndrome is made.

Why is early identification of alport syndrome important?

Alport syndrome is an inherited syndrome you have a 50% chance of It also means that you can discuss condition. It is possible to not know passing the gene to your sons and with health professionals ways of that you have Alport syndrome, or daughters. reducing the risk of passing the are a ‘carrier’ for the Alport syndrome on to your children. If it is known that people in your gene, even when you are aged in your family have Alport syndrome then it is 30s. By then you may have started possible to determine who else in the your family and already passed the family may be at risk. Early detection Alport gene on to your children. of Alport syndrome means that your Diagnosis in females is very important. treatment can be started sooner. If you are a female with Alport

What are the complications of alport syndrome?

The first signs of kidney damage are Other common complications include: See our range of fact sheets for more usually blood (haematuria) and then information. • Kidney failure - Alport syndrome protein () in your urine: always causes kidney failure in males, • Blood in your urine is always present which usually happens between in young male children with Alport the ages of 15 and 50 years. Kidney syndrome, but may not be present in failure is not as common in females young females. Blood in your urine with Alport syndrome. may not always be noticed. Small • Deafness - Not everyone with Alport amounts can be detected using a syndrome will suffer from deafness, urine test. but those who do generally develop • Protein in your urine may be present it by the time they are teenagers. in the urine of teenagers and young Loss of hearing in girls tends to be adults with Alport syndrome. Large milder than in boys. Hearing loss amounts of protein in your urine can seems to increase at the same stage cause fluid retention and swelling as kidney problems. of body parts such as your ankles, • Eye sight problems - Alport wrists, or face. If males do not have syndrome can cause problems with blood and/or protein in their urine your eye lens, retina or it can cause after 10 years of age, they are unlikely . An ophthalmologist (eye to have Alport syndrome. specialist) may be able to diagnose See the ‘Albuminuria’ and ‘Blood this before you even notice any in Urine’ fact sheets for more problems with your eye sight. information.

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How is alport syndrome treated?

Eye sight problems High blood pressure If you have severe problems with Good control of blood pressure is your eye sight, your eye specialist very important. It helps to keep your (ophthalmologist) will talk to you kidneys functioning for as long as about suitable treatment options. possible and reduces your risk of Hearing Loss cardiovascular disease (heart disease or stroke). Different types of blood Hearing aids may be helpful, and you pressure tablets work in different should protect your hearing in noisy ways so usually more than one type places. Loss of hearing is likely to is prescribed. Talk to your doctor be permanent, so seek education about what your target blood pressure and counselling with your hearing should be. specialist (audiologist). Healthy lifestyle and transplantation Choices can also help, such as not When your kidneys fail, you will need smoking, staying at a healthy weight, dialysis or a kidney transplant. Your eating a healthy diet which is low kidney specialist (nephrologist) will in salt and having protein intake talk to you about what dialysis and checked (an Accredited Practising kidney transplant options are suitable Dietitian can help with this). for you.

Can alport syndrome be What is the outlook for alport syndrome? prevented? Researchers are currently developing obtained from this study will help new methods for diagnosing and in the design of future clinical trials If you have a family history of Alport treating Alport syndrome. to test a new drug in people with syndrome, you may wish to discuss Alport syndrome. More information If you have Alport syndrome, or know your situation with a doctor or genetic can be found at www.alport.org.au/ someone who does, you may want to counsellor before starting a family. RESEARCH. It is possible to combine in-vitro learn about the ATHENA study which fertilisation (IVF) with genetic testing is now recruiting patients around the to make sure the Alport gene is not world. The ATHENA study is designed passed on. to learn more about the progression of Alport syndrome. Information

Who should I contact for more information? THINGS TO REMEMBER • Alport syndrome is a genetic disease which affects your The Alport Foundation of Australia is a non-profit support group for patients kidneys, hearing and eye sight and families affected by Alport • Early identification means your treatment can start sooner syndrome. It promotes research into the treatment of Alport syndrome and • Genetic testing can reduce the risk of passing the Alport related genetic renal diseases. gene on to your children Further information can be found on their website www.alport.org.au or by phoning (02) 4016 0242.

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What does that word mean?

Audiologist - A medical doctor who Gene - Each cell in the human body Inherited - Passed to you by your specialises in hearing loss. contains about 25,000 to 35,000 parents. This can include personality genes. Genes carry the information traits, physical appearance and some Blood pressure - The pressure of the that determines your traits, which are health conditions. blood in the arteries as it is pumped features or characteristics that are around the body by the heart. Mutation - A gene that is faulty passed on to you — or inherited — and does not work like it should. Carrier - A carrier is a person who has from your parents. This can be inherited or caused by a change in one copy of a gene. Every Genetic Counsellor - Someone environmental factors including diet person carries two copies of most trained to help people understand and and chemicals. genes (one copy from the mother and made decisions around the medical, one from the father). The carrier does Nephrologist - A medical doctor who psychological, family and reproductive not have the genetic disease related specialises in kidney function. effects of your genetic condition. They to the abnormal gene, but they can do not make decisions for you, but Ophthalmologist - A medical doctor pass this abnormal gene to their child. will help you reach decisions which who specialises in diagnosing and Collagen - The main protein in your are right for you and your family. managing conditions of the eyes. skin, which gives strength and support More information can be found from Proteinuria - The medical term for too for your tendons, cartilage, and The Australasian Society of Genetic much protein in your urine. connective tissue which surround Counsellors (ASGC) at www.hgsa.org. many of your organs. au/asgc. Transplant - An organ transplant involves surgically removing an organ Dialysis - A treatment for kidney failure - One of the key structures Glomerulus from one person and placing into that removes waste products and that make up the nephron which is the another person. excess fluid from the blood by filtering functional unit of the kidney. the blood through a special membrane. Haematuria - The medical term for There are two types of dialysis; blood in your urine. haemodialysis and peritoneal dialysis.

This is intended as a general For more information introduction to this topic and is not about kidney or urinary meant to substitute for your doctor’s If you have a hearing or Health Professional’s advice. or speech impairment, All care is taken to ensure that health, please contact the information is relevant to contact the National the reader and applicable to Relay Service on our free call Kidney each state in Australia. It should be noted that Kidney Health 1800 555 677 or Helpline on 1800 454 363. Australia recognises that each relayservice.com.au person’s experience is individual Or visit our website and that variations do occur in For all types of services treatment and management due to ask for 1800 454 363 kidney.org.au to access personal circumstances, the health professional and the state one free health literature. lives in. Should you require further information always consult your doctor or health professional.

Kidney Health Australia gratefully acknowledges the valuable contribution of Alport Foundation of Australia in the development of this material.

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