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 Workshop on Alport Syndrome in Glasgow was a pre-conference workshop ahead of the 50th anniversary meeting of the European Society for Pediatric Nephrology. It focussed on updates in clinical practice, genetics and 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.
Bibliographical noteFunding Information:
Acknowledgements The author time was supported by a Wellcome Senior Fellowship award (202860/Z/16/Z) to R.L. and a Research Project Award to R.L. from Kidney Research UK (K1199). The authors also acknowledge core funding from the Wellcome Trust (203128/Z/16/ Z) to the Wellcome Centre for Cell-Matrix Research at the University of Manchester.
© 2019, The Author(s).
- Alport syndrome
- Basement membrane
- Type IV collagen
PubMed: MeSH publication types
- Journal Article
- Research Support, Non-U.S. Gov't