The importance of clinician, patient and researcher collaborations in Alport syndrome
AuthorsRheault, Michelle N.
Randles, Michael J.
Flinter, Frances A
Miner, Jeffrey H
Affiliation1. University of Minnesota Masonic Children’s Hospital; 2. Royal Melbourne Hospital; 3. University of Manchester; 4. Alport Syndrome Foundation; 5. University of Oxford; 6. University of Edinburgh; 7. University Medicine Goettingen; 8. Department of Clinical Genetics and Genomics, Guy’s and St Thomas Hospital. 9. Washington University School of Medicine; 10. Alport UK; 11. Manchester University Hospitals NHS Foundation Trust
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AbstractAlport syndrome (AS) is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, AS is rare genetic disorder but still accounts for >1% of the prevalent population receiving renal replacement therapy. There is also increasing awareness about the risk of chronic kidney disease in individuals with heterozygous mutations in AS genes. The mainstay of current therapy is the use of angiotensin converting enzyme inhibitors and angiotensin receptor blockers, yet potential new therapies are now entering clinical trials. The 2017 International Workshop on Alport Syndrome in Glasgow was a preconference workshop ahead of the 50th anniversary meeting of the European Society for Pediatric Nephrology. It focussed on updates in clinical practice, genetics, basic science and also incorporated patient perspectives. More than 80 international experts including clinicians, geneticists, researchers from academia and industry, and patient representatives took part in panel discussions and breakout groups. This report summarises the workshop proceedings and the relevant contemporary literature. It highlights the unique clinician, patient and researcher collaborations achieved by regular engagement between the groups.
CitationRheault, M. N., Savige, J., Randles, M. J., Weinstock, A., Stepney, M., Turner, A. N., ... & Lagas, S. (2019). The importance of clinician, patient and researcher collaborations in Alport syndrome. Pediatric Nephrology, 1-10.
DescriptionThis is a post-peer-review, pre-copyedit version of an article published in Pediatric Nephrology. The final authenticated version is available online at: https://doi.org/10.1007/s00467-019-04241-7
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