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学科主题: 临床医学
题名:
Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy
作者: Savige, Judy1; Gregory, Martin2; Gross, Oliver3; Kashtan, Clifford4; Ding, Jie5; Flinter, Frances6
刊名: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
发表日期: 2013-03-01
DOI: 10.1681/ASN.2012020148
卷: 24, 期:3, 页:364-375
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Urology & Nephrology
研究领域[WOS]: Urology & Nephrology
关键词[WOS]: GENOTYPE-PHENOTYPE CORRELATIONS ; DELAYS RENAL-FAILURE ; IV COLLAGEN ; KIDNEY-TRANSPLANTATION ; HEREDITARY NEPHRITIS ; NATURAL-HISTORY ; 195 FAMILIES ; COL4A5 GENE ; MOUSE MODEL ; MUTATIONS
英文摘要:

Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D (Expert opinion without explicit critical appraisal, or based on physiology, bench research, or first principles-National Health Service category) or Level III (Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees-U.S. Preventive Services Task Force) evidence. The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance; the need to identify and follow all affected members of a family with X-linked Alport syndrome, including most mothers of affected males; the treatment of males with X-linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin system blockade, possibly even before the onset of proteinuria; discouraging the affected mothers of males with X-linked Alport syndrome from renal donation because of their own risk of kidney failure; and consideration of genetic testing to exclude X-linked Alport syndrome in some individuals with thin basement membrane nephropathy. The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further. J Am Soc Nephrol 24: 364-375, 2013. doi: 10.1681/ASN.2012020148

语种: 英语
WOS记录号: WOS:000315472600007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54959
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Univ Med Goettingen, Dept Nephrol & Rheumatol, Gottingen, Germany
2.Univ Melbourne, Dept Med Northern Hlth, Melbourne, Vic, Australia
3.Univ Utah, Sch Med, Div Nephrol, Salt Lake City, UT USA
4.Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA
5.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
6.Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England

Recommended Citation:
Savige, Judy,Gregory, Martin,Gross, Oliver,et al. Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY,2013,24(3):364-375.
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