The importance of clinician, patient & researcher collaborations in Alport Syndrome

Michelle N Rheault, Judith Savige, Michael J Randles, Andre Weinstock, Melissa Stepney, Neil Turner, Gina Parziale, Oliver Gross

Research output: Contribution to journalArticlepeer-review

Abstract

Alport 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.
Original languageEnglish
JournalPediatric Nephrology
Early online date1 May 2019
DOIs
Publication statusE-pub ahead of print - 1 May 2019

Fingerprint

Dive into the research topics of 'The importance of clinician, patient & researcher collaborations in Alport Syndrome'. Together they form a unique fingerprint.

Cite this