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学科主题临床医学
The 2014 International Workshop on Alport Syndrome
Miner, Jeffrey H.1; Baigent, Colin2,3; Flinter, Frances4; Gross, Oliver5; Judge, Parminder2,3; Kashtan, Clifford E.6; Lagas, Sharon7; Savige, Judith8; Blatt, Dave9; Ding, Jie10; Gale, Daniel P.11; Midgley, Julian P.12; Povey, Sue13; Prunotto, Marco14; Renault, Daniel15; Skelding, Jules16; Turner, A. Neil17; Gear, Susie16
关键词Ace Inhibitors Alport Syndrome Glomerulus Proteinuria
刊名KIDNEY INTERNATIONAL
2014-10-01
DOI10.1038/ki.2014.229
86期:4页:679-684
收录类别SCI
文章类型Review
WOS标题词Science & Technology
类目[WOS]Urology & Nephrology
资助者Alport UK ; Edinburgh University Research Fund ; Oxford Kidney Unit Trust Fund ; The Kidney Foundation of Canada ; Amgen ; Alport Syndrome Foundation (USA) ; British Kidney Patient Association ; Rare Disease UK ; Sanofi-Genzyme ; Kidney Research UK ; Alport UK ; Edinburgh University Research Fund ; Oxford Kidney Unit Trust Fund ; The Kidney Foundation of Canada ; Amgen ; Alport Syndrome Foundation (USA) ; British Kidney Patient Association ; Rare Disease UK ; Sanofi-Genzyme ; Kidney Research UK
研究领域[WOS]Urology & Nephrology
关键词[WOS]GENOTYPE-PHENOTYPE CORRELATIONS ; GLOMERULAR-BASEMENT-MEMBRANE ; COLLAGEN-IV ; FAMILIAL HEMATURIA ; NATURAL-HISTORY ; RENAL FIBROSIS ; MOUSE MODEL ; DISEASE ; PROGRESSION ; GLOMERULOSCLEROSIS
英文摘要

Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen alpha 3 alpha 4 alpha 5(1V) resulting in renal failure. The collagen alpha 3 alpha 4 alpha 5(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 a chain components of the collagen alpha 3 alpha 4 alpha 5(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.

语种英语
资助者Alport UK ; Edinburgh University Research Fund ; Oxford Kidney Unit Trust Fund ; The Kidney Foundation of Canada ; Amgen ; Alport Syndrome Foundation (USA) ; British Kidney Patient Association ; Rare Disease UK ; Sanofi-Genzyme ; Kidney Research UK ; Alport UK ; Edinburgh University Research Fund ; Oxford Kidney Unit Trust Fund ; The Kidney Foundation of Canada ; Amgen ; Alport Syndrome Foundation (USA) ; British Kidney Patient Association ; Rare Disease UK ; Sanofi-Genzyme ; Kidney Research UK
WOS记录号WOS:000342881000007
Citation statistics
Cited Times:14[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59969
Collection北京大学第一临床医学院_儿科
作者单位1.Univ Edinburgh, Royal Infirm, Edinburgh, Midlothian, Scotland
2.Alport UK, Tetbury, England
3.Washington Univ, Sch Med, Div Renal, St Louis, MO 63110 USA
4.Univ Oxford, Clin Trial Serv Unit, Oxford, England
5.Univ Oxford, Epidemiol Studies Unit, Oxford, England
6.Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England
7.Univ Med Goettingen, Clin Nephrol & Rheumatol, Gottingen, Germany
8.Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA
9.Alport Syndrome Fdn, Phoenix, AZ USA
10.Alport Fdn Australia, Valentine, NSW, Australia
11.UCL, Ctr Nephrol, London, England
12.Pharma Res & Early Dev, Discovery Technol Dept, Basel, Switzerland
13.Associat Informat & Res Genet Renal Dis AIRG Fran, Paris, France
14.Univ Melbourne, Melbourne Hlth, Parkville, Vic 3052, Australia
15.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
16.Alberta Childrens Prov Gen Hosp, Dept Pediat, Calgary, AB, Canada
17.UCL, Dept Genet Evolut & Environm, London, England
Recommended Citation
GB/T 7714
Miner, Jeffrey H.,Baigent, Colin,Flinter, Frances,et al. The 2014 International Workshop on Alport Syndrome[J]. KIDNEY INTERNATIONAL,2014,86(4):679-684.
APA Miner, Jeffrey H..,Baigent, Colin.,Flinter, Frances.,Gross, Oliver.,Judge, Parminder.,...&Gear, Susie.(2014).The 2014 International Workshop on Alport Syndrome.KIDNEY INTERNATIONAL,86(4),679-684.
MLA Miner, Jeffrey H.,et al."The 2014 International Workshop on Alport Syndrome".KIDNEY INTERNATIONAL 86.4(2014):679-684.
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