Journal article

The importance of clinician, patient and researcher collaborations in Alport syndrome

Michelle N Rheault, Judith Savige, Michael J Randles, Andre Weinstock, Melissa Stepney, A Neil Turner, Gina Parziale, Oliver Gross, Frances A Flinter, Jeffrey H Miner, Sharon Lagas, Susie Gear, Rachel Lennon

Pediatric Nephrology | SPRINGER | Published : 2020

Abstract

Alport syndrome 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, Alport syndrome is a 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 Alport syndrome 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 W..

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