Alport综合征一家系听力表现分析
A Study of Analiological of Characteristics of a Family with Alport Syndrome
廖勇;罗志强;石大志;
1:南华大学附二医院耳鼻咽喉科
2:南华大学附二医院耳鼻咽喉科
3:南华大学附二医院耳鼻咽喉科 衡阳421001
4:衡阳421001
1王海燕,主编.肾脏病学[M].第2版.北京:人民卫生出版社,1995.1285~1287.
2王轶,曹克利,王直中,等.Alport综合征的临床及听力学表现[J].听力学及言语疾病杂志,2003,11:110.
3王芳,丁洁,俞礼霞,等.中国Alport综合征临床特征[J].临床儿科杂志,2003,21:601.
4Delb W,SchenkJ,Iro H.Dasfechtner-syndromeine seltene differen-tial diagnose des Alport Syndroms[J].Springer-Verlag,2000,48:616.
5Borza DB,Bondar O,Todd P,et al.Quatenary organization of the good-pasture autoantigen,the alpha3(Ⅳ)collagen chain.Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4and alpha5NC1domains[J].J Biol Chem,2002,277:40075.
6Borza DB,Bondar O,Ninomiya Y,et al.The NC1domain of collagenⅣencodes a novel network composed of the alpha1,alpha2,alpha5and alpha6chains in smooth muscle basement membranes[J].J Biol Chem,2001,276:28532.
7Kashtan CE.Alport syndrome andthin glomerular basement membrane disease[J].J AmSoe Nephrol,1998,9:1736.
8Barker DF,Hostikka SL,Zhou J,et al.Identification of mutations inthe col4A5collagen gene in Alport syndrome[J].Science,1990,248:1224.
9Barker DF,Denison JC,Atkin CL,et al.Efficient detection of Alport syndrome col4A5mutations with multiplex genomic PCR-SSCP[J].AmJ Med Genet,2001,98:148.
10吴俊.Alport综合征与Ⅳ型胶原的分子遗传学研究进展[J].国外医学耳鼻咽喉科学分册,1999,5:529.
11谌贻璞,邹万忠,徐世余,等.遗传性进行性肾炎-11个家系及2例肾活检报告[J].中华内科杂志,1982,21:587.
12Mitschke H,Schmidt P,Zazgorni KJ,et al.Effect of renal transplanta-tion on uraemic deafness:a longtermstudy[J].Audiology,1977,16:530.