title: The 2014International Workshop on Alport Syndrome.
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.
authors.affiliation: Renal Division, Washington University School of Medicine, St Louis, Missouri, USA.
authors.forename: Jeffrey H
authors.initials: JH
authors.lastname: Miner
authors.affiliation: Clinical Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Oxford, UK.
authors.forename: Colin
authors.initials: C
authors.lastname: Baigent
authors.affiliation: Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
authors.forename: Frances
authors.initials: F
authors.lastname: Flinter
authors.affiliation: Clinic of Nephrology and Rheumatology, University Medicine Goettingen, Goettingen, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Gross
authors.affiliation: Clinical Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Oxford, UK.
authors.forename: Parminder
authors.initials: P
authors.lastname: Judge
authors.affiliation: Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
authors.forename: Clifford E
authors.initials: CE
authors.lastname: Kashtan
authors.affiliation: Alport Syndrome Foundation, Phoenix, Arizona, USA.
authors.forename: Sharon
authors.initials: S
authors.lastname: Lagas
authors.affiliation: Melbourne Health, The University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Judith
authors.initials: J
authors.lastname: Savige
authors.affiliation: Alport Foundation of Australia, Valentine, New South Wales, Australia.
authors.forename: Dave
authors.initials: D
authors.lastname: Blatt
authors.affiliation: Pediatric Department, Peking University First Hospital, Beijing, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.affiliation: University College London-Center for Nephrology, London, UK.
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Gale
authors.affiliation: Department of Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Julian P
authors.initials: JP
authors.lastname: Midgley
authors.affiliation: Department of Genetics, Evolution and Environment, University College London, London, UK.
authors.forename: Sue
authors.initials: S
authors.lastname: Povey
authors.affiliation: Discovery Technology Department, Pharma Research and Early Development, Basel, Switzerland.
authors.forename: Marco
authors.initials: M
authors.lastname: Prunotto
authors.affiliation: Association for Information and Research on Genetic Renal Diseases (AIRG)-France, Paris, France.
authors.forename: Daniel
authors.initials: D
authors.lastname: Renault
authors.affiliation: Alport UK, Tetbury, UK.
authors.forename: Jules
authors.initials: J
authors.lastname: Skelding
authors.affiliation: Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh, UK.
authors.forename: A Neil
authors.initials: AN
authors.lastname: Turner
authors.affiliation: Alport UK, Tetbury, UK.
authors.forename: Susie
authors.initials: S
authors.lastname: Gear
mesh_terms: D000818:Animals; D001324:Autoantigens / Q000235:genetics / Q000378:metabolism; D002986:Clinical Trials as Topic; D024141:Collagen Type IV / Q000235:genetics / Q000378:metabolism; D005820:Genetic Testing; D050533:Glomerular Basement Membrane / Q000378:metabolism; D006801:Humans; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D018579:Patient Selection; D050199:Podocytes; D012042:Registries
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; C478159:COL4A5 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain