Alport综合征诊断与治疗研究进展
摘要
Alport综合征是一种以进行性肾功能减退和肾小球基底膜结构异常伴有神经性耳聋和眼部病变为临床特征的遗传性肾病。编码Ⅳ型胶原α3、α4、α5链的基因突变与这一疾病有关。肾小球基底膜的超微结构变化与肾和皮肤基底膜的Ⅳ型胶原链的频繁的异常表达是Alport综合征诊断关键。动物模型提供了宝贵的工具来提供各种实验数据，并评估潜在的治疗方案的好处。本文将上述研究进展简要综述。
出处
《国际泌尿系统杂志》
2010年第3期407-410,共4页
International Journal of Urology and Nephrology
参考文献27
-
1Arrondel C,Vodovar N,Knebelmann B,et al.Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.J Am Soc Nephrol,2002,13(1):65-74.
-
2Haas M.Alport syndrome and thin glomerular basement membrane nephropathy:a practical approach to diagnosis.Arch Pathol Lab Med,2009,133(2):224-232.
-
3Jais JP,Knebelmann B,Ciatras I,et al.X-linked Alport syndrome:natural history and genotype-phenotype correlations in girls and women belonging to 195 families:a"European Community Alport Syndrome Concerted Action" study.J Am Soc Nephrol,2003,14 (10):2603-2610.
-
4Shaw EA,Colville D,Wang YY,et al.Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.Nephrol Dial Transplant,2007,22(1):104-108.
-
5Jais JP,Knebelmann B,Ciatras I,et al.X-linked Alport syndrome:natural history and genotype-phenotype correlations in girls and women belonging to 195 families; a"European Community Alport Syndrome Concerted Action" study.J Am Soc Nephrol,2003,14 (10):2603-2610.
-
6Dai Y,Huang Y,He X,et al.Clinical and genetic mapping of X chromosome in the X-linked dominant inherited Alport' s syndrome.Saudi J Kidney Dis Transpl,2008,19(5):767-774.
-
7Heidet L,Dahan K,Zhou J,et al.Deletions of both alpha 5 (Ⅳ) and alpha 6 (Ⅳ) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.Hum Mol Genet,1995,4(1):99-108.
-
8van der Loop FT,Monnens LA,Schr? der CH,et al.Identification of C0L4 A5 defects in Alport's syndrome by immunohistochemistry of skin.Kidney Int,1999,55(4):1217-1224.
-
9Heidet L,Arrondel C,Forestier L,et al.Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.J Am Soc Nephrol,2001,12(1):97-106.
-
10van der Loop FT,Heidet L,Timmer ED,et al.Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.Kidney Int,2000,58(5):1870-1875.
-
1王伟铭.Alport综合征的治疗[J].肾脏病与透析肾移植杂志,2010,19(4):346-347. 被引量：1
-
2术前有效控制糖尿病患者血糖可降低术后感染的发生率[J].中华医学信息导报,2006,21(12):9-9.
-
3林颖,陈楠.Alport综合征的治疗研究进展[J].中国中西医结合肾病杂志,2008,9(5):456-458. 被引量：2
-
4张妍春,王从毅,马波.Alport综合征1例[J].国际眼科杂志,2007,7(5):1324-1324. 被引量：1
-
5王维,赵妍(综述),杜悦(审校).Alport综合征的诊治研究进展[J].国际儿科学杂志,2011,38(4):419-420. 被引量：1
-
6刘健,王军,刘培发,谢劲勇.星状神经节阻滞治疗神经性耳聋的效果[J].中国麻醉与镇痛,2001,3(1):76-77.
-
7戴文,高岩.Alport综合征致病基因的研究进展[J].中国实用儿科杂志,2006,21(10):783-785.
-
8吕天羽,戴勇.Alport综合征遗传学研究进展[J].国际遗传学杂志,2007,30(2):137-139.
-
9刘锐.内科疾病与血尿[J].中国医刊,2003,38(3):12-14.
-
10王芳,丁洁,俞礼霞,杨霁云.中国Alport综合征临床特征[J].临床儿科杂志,2003,21(10):601-604. 被引量：5
