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Alport综合征研究进展 被引量：2

Advances in Alport syndrome
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摘要 Alport综合征是一种具有特征性的肾脏、眼部及耳部病变的遗传性疾病,本文主要对其发病机制、遗传方式、临床表现等进行综述。 Alport syndrome is an inherited disorder involving damage to the kidney, and in some families, loss of hearing or occurence of ocular lesions. The etiology, genetics and clinical manifestations are reviewed in this article.
作者 张琼 张士胜 王玲
机构地区 上海第二医科大学附属瑞金医院眼科
出处 《国际眼科杂志》 CAS 2005年第4期727-729,共3页 International Eye Science
关键词 ALPORT综合征 发病机制 临床表现 染色体显性 遗传性肾炎 眼部疾病 耳部疾病 Alport syndrome etiology genetics clinical manifestation
分类号 R596 [医药卫生—内科学]
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参考文献21

  • 1Guthrie LG."Idiopathic" or congenital,hereditary and family haematuria.Lancet,1902;1:1243-1247.
  • 2Alport AC.Hereditary family congenital heamorrhagic nephritis.Br Med J,1927;1:504-510.
  • 3Sohar E.Renal disease,inner ear deafness and ocular changes.A new herdofammilial syndrome.Arch Intern Med,1956;97:627-632.
  • 4Spear GS.The pathology of the kidney in the Alport syndrome.Birth Defects Orig Artic Ser,1974;10(4):109-113.
  • 5Atkin CL,Hasstedt SJ,Menlove L,Cannon L,Kirscher N,Schwartz C,Nguyen K,Skolnick M.Mapping of Alport syndrome to the long arm of the X chromosome.Am J Hum Genet,1988;42:249-255.
  • 6Kashtan CE.Alport syndrome and thin glomerular basement membrane disease.JAm Soc Nephrol,1998;9:1736-1750.
  • 7Jacobs M,Jeffrey B,Kriss A,Taylor D,Sa G,Barratt TM.Ophthalmologic assessment of young patients with Alport syndrome.Ophthalmology,1992;99:1039-1044.
  • 8Govan JA.Ocular manifestation of Alport's syndrome:a hereditary disorder of basement membranes? Br J Ophthalmol,1983;67:493-503.
  • 9Varnek L,Schnohr P,Jensen G.Presenile corneal arcus in healthy persons:a possible cardiovascular risk indicator in younger adults.Acta Ophthalmol,1979;57:755-765.
  • 10Teekhasaenee C,Nimmanit S,Wuttiphan S,Vareesangthip K,Laohapand T,Mulasitr P,Ritch R.Posterior polymorphous dystrophy and alport syndrome.Ophthalmology ,1991;98:1207-1215.

同被引文献20

  • 1李凤鸣 李子良 胡铮.眼科全书[M].北京:人民卫生出版社,2002.2023.
  • 2Flinter F, Chantler C. Alport's syndrome: inheritance and clinical features. In : Spitzer A, Auner E. Inheritance of kidney and renal Tract Disease, Boston : Kluwer Academic, 1990 : 107
  • 3Thorner PS. Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract 2007; 106 (2) : c82-c88
  • 4Flinter F, Chantler C. Alport's syndrome : inheritance and clinical features. In: Spitzer A, Auner E, eds. Inheritance of Kidney and Renal Tract Disease. Boston : Kluwer Academic 1990 : 107
  • 5Kashtan CE. Alport syndrome. An ingerited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 1999 ;78 ( 5 ) :338-360
  • 6Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 1997 ; 18 (4) : 161-173
  • 7Gupta V, Kumar N. Bilateral macular holes: an unusual feature of Alport syndrome. Retina 2002 ;22(4) :499-501
  • 8Rahman W, Banerjee S. Giant Macular hole in Alport syndrome.Can J Ophthalmol 2007;42(4) :314-315
  • 9Mete UO, Karaaslan C, Ozbilgin MK, et al. Alport's syndrome with bilateral macular hole. Acta Ophthalmol Scand 1996 ;74 ( 1 ) :77-80
  • 10Jacobs M, Jeffrey B, Kriss A, et al. Ophthalmologic assessment of young patients with Alport syndrome. Ophthalmology 1992 ;99 (7) : 1039

引证文献2

二级引证文献5

国际眼科杂志
2005年 第4期

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