information sheets

Topics vary from general introductions to guidelines for diagnosis and management and specialist advice for treatment of eyes.

 

What is Alport Syndrome – a 3 page A4 leaflet that introduces genetics. Produced by Clinical Genetics Department 7th Floor, Borough Wing, Guy’s Hospital, London

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Alport’s Syndrome – a 6 page A4 document that introduces a number of topics relating to Alport Syndrome, including genetics. Produced by Kidney Research UK/Action for Alport’s Campaign with Professor Frances Flinter

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Blood test results: understanding your numbers – a short leaflet kindly put together for us by Julie Tippet on what is normal and what is not

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Can I have a kidney transplant? – an A4 booklet about kidney transplants and who can have them, what is involved. This booklet is produced by the Centre for Nephrology, Royal Free Hospital, London

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It may also be useful to check the websites of other hospitals, nearer to you, that may have their own information on similar topics.

Story of Yvette Phillips who was one of the youngest patients in the country to have a transplant in 1977 – a news article describing her life, having her own child and a second transplant years later

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About time: treating children with Alport Syndrome – an article by Professor Judy Savige in Australia that describes guidelines that have been adopted as the international standard for treatment of children with Alport Syndrome.

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ACE Inhibitors delay renal replacement therapy and increase lifespan in Alport Syndrome – a one page article about a simple blood pressure pill that delays progression to renal failure

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Expert guidelines for the management of Alport Syndrome and Thin Basement Membrance Nephrothapy (TBMN) – guidelines written by Judy Savige (Australia), Martin Gregory (USA), Oliver Gross (Germany), Clifford Kashtan (USA), Jie Ding (China) and Frances Flinter (UK). These recommendations were developed by adult and paediatric Nephrologists, and Geneticists from four continents and were adopted by all countries, in January 2014, as a way of consistently diagnosing and managing Alport Syndrome which is similar to TBMN. This may be useful for patients to share with GPs and clinicians.

The recommendations include:

  • “the use of genetic testing as the ‘gold standard’ for the diagnosis of Alport Syndrome and the demonstration of its mode of inheritance
  • the need to identify and follow all affected members of a family with X-linked Alport Syndrome, including the mothers of affected males
  • the treatment of males with X-linked Alport Syndrome and individuals with autosomal recessive disease with angiotensin converting enzyme (ACE) inhibitors, possibly even before the onset of proteinuria
  • discouraging the affected mothers of males with X-linked Alport Syndrome from renal donation because of their own risk of kidney failure
  • and consideration of genetic testing to exclude X-linked Alport

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Alport Syndrome and the Eye – Here is a one-page checklist for you to take to your Optician or Eye Surgeon, summarising the range of changes that can be seen in the eye in Alport Syndrome, the symptoms of many of these disorders overlap, so if there is any concern, you should seek the opinion of an eye specialist. We believe most of these changes develop with age, and are infrequent in teenagers

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Study looking at the eyes of people with Alport Syndrome – a letter describing a study that is underway at Guy’s and St Thomas’ hospital to better understand the eyes of people with Alport Syndrome. If you would like a specialist to look at your eyes, ask your GP to refer you to Moin Mohamed, who’s contact details are in this letter. His team offers good advice on some easy ways to improve some of the complications

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A patient’s journey – a three page article about Peter Park who describes the not always easy interaction between the informed patient with a rare disorder and the medical profession. Although he has another rare renal condition, the experiences are relevant for people living with Alport Syndrome.

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Developing a strategy for the management of rare diseases – a two-page article by two leading nephrologists who are providing central co-ordination and input from patients, such as those with Alport Syndrome, to create a national strategy for rare diseases that is already having a profound effect on the working practices of the NHS.

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Describing Alport Syndrome – In the early stages of setting up alport uk in March 2013, we asked a researcher to interview people living with Alport Syndrome to get their views on:

  1. How would you describe Alport Syndrome very briefly to someone who knows nothing about it?
  2. What does it feel like to have Alport Syndrome?

The quotes in the document attached are how people responded.

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Familial haematuria: when to consider genetic testing - an article on when to consider genetic testing for children.

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Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative – Kashtan – a paper on the recommendations for Alport Syndrome treatment.

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