The 2014International Workshop on Alport Syndrome.
| Title: | The 2014International Workshop on Alport Syndrome. |
|---|---|
| Authors: | Miner JH; Renal Division, Washington University School of Medicine, St Louis, Missouri, USA.; Baigent C; Clinical Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Oxford, UK.; Flinter F; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Gross O; Clinic of Nephrology and Rheumatology, University Medicine Goettingen, Goettingen, Germany.; Judge P; Clinical Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Oxford, UK.; Kashtan CE; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Lagas S; Alport Syndrome Foundation, Phoenix, Arizona, USA.; Savige J; Melbourne Health, The University of Melbourne, Parkville, Victoria, Australia.; Blatt D; Alport Foundation of Australia, Valentine, New South Wales, Australia.; Ding J; Pediatric Department, Peking University First Hospital, Beijing, China.; Gale DP; University College London-Center for Nephrology, London, UK.; Midgley JP; Department of Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Povey S; Department of Genetics, Evolution and Environment, University College London, London, UK.; Prunotto M; Discovery Technology Department, Pharma Research and Early Development, Basel, Switzerland.; Renault D; Association for Information and Research on Genetic Renal Diseases (AIRG)-France, Paris, France.; Skelding J; Alport UK, Tetbury, UK.; Turner AN; Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh, UK.; Gear S; Alport UK, Tetbury, UK. |
| Source: | Kidney international [Kidney Int] 2014 Oct; Vol. 86 (4), pp. 679-84. Date of Electronic Publication: 2014 Jul 02. |
| Publication Type: | Conference Proceedings; Research Support, Non-U.S. Gov't |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2016- : New York : Elsevier; Original Publication: New York, Springer-Verlag. |
| MeSH Terms: | Registries*; Nephritis, Hereditary/*diagnosis ; Nephritis, Hereditary/*genetics; Autoantigens/genetics ; Autoantigens/metabolism ; Collagen Type IV/genetics ; Collagen Type IV/metabolism ; Glomerular Basement Membrane/metabolism ; Nephritis, Hereditary/drug therapy ; Animals ; Clinical Trials as Topic ; Genetic Testing ; Humans ; Patient Selection ; Podocytes |
| 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. |
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| Grant Information: | 086034 United Kingdom WT_ Wellcome Trust; G1002528 United Kingdom MRC_ Medical Research Council; R01 DK078314 United States DK NIDDK NIH HHS; R21 DK095419 United States DK NIDDK NIH HHS |
| Substance Nomenclature: | 0 (Autoantigens); 0 (COL4A4 protein, human); 0 (COL4A5 protein, human); 0 (Collagen Type IV); 0 (type IV collagen alpha3 chain) |
| Entry Date(s): | Date Created: 20140703 Date Completed: 20150701 Latest Revision: 20260128 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC4182137 |
| DOI: | 10.1038/ki.2014.229 |
| PMID: | 24988067 |
| Database: | MEDLINE |
Conference Proceedings; Research Support, Non-U.S. Gov't