Miner, Jeffrey H;
Baigent, Colin;
Flinter, Frances;
Gross, Oliver;
Judge, Parminder;
Kashtan, Clifford E;
Lagas, Sharon;
... Gear, Susie; + view all
(2014)
The 2014 International Workshop on Alport Syndrome.
Kidney International
, 86
(4)
pp. 679-684.
10.1038/ki.2014.229.
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Abstract
Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5(IV) resulting in renal failure. The collagen α3α4α5(IV) heterotrimer forms a network that is a major component of the kidney glomerular basement membrane (GBM) and basement membranes in the cochlea and eye. Alport syndrome, estimated to affect 1 in 5000-10,000 individuals, is caused by mutations in any one of the three genes that encode the α chain components of the collagen α3α4α5(IV) heterotrimer: COL4A3, COL4A4, and COL4A5. Although angiotensin-converting enzyme inhibition is effective in Alport syndrome patients for slowing progression to end-stage renal disease, it is neither a cure nor an adequate long-term protector. The 2014 International Workshop on Alport Syndrome, held in Oxford, UK, from January 3-5, was organized by individuals and families living with Alport syndrome, in concert with international experts in the clinical, genetic, and basic science aspects of the disease. Stakeholders from diverse communities-patient families, physicians, geneticists, researchers, Pharma, and funding organizations-were brought together so that they could meet and learn from each other and establish strategies and collaborations for the future, with the overall aim of discovering much needed new treatments to prolong kidney function.Kidney International advance online publication, 2 July 2014; doi:10.1038/ki.2014.229.
| Type: | Article |
|---|---|
| Title: | The 2014 International Workshop on Alport Syndrome |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/ki.2014.229 |
| Publisher version: | http://dx.doi.org/10.1038/ki.2014.229 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. To view a copy of this license, visit http:// creativecommons.org/licenses/by-nc-sa/3.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Urology & Nephrology, ACE inhibitors, Alport syndrome, glomerulus, proteinuria, GENOTYPE-PHENOTYPE CORRELATIONS, GLOMERULAR-BASEMENT-MEMBRANE, COLLAGEN-IV, NATURAL-HISTORY, 195 FAMILIES, MOUSE MODEL, PROGRESSION, MUTATIONS, FIBROSIS, THERAPY |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10196196 |
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