中国Alport综合征表型和基因型特征

《中国Alport综合征表型和基因型特征》由会员上传分享，免费在线阅读，更多相关内容在行业资料-天天文库。

1、万方数据堡壁亟互堡堑盟堡植鐾查里!Q鲞塑§塑200lg-!!旦中国Alport综合征表型和基因型特征丁洁王芳郭顺华俞礼霞杨霁云50l·著·摘要目的：分析并探讨我国Mport综合缸(As)患者临床表型和基因型特艇。方法：以∞铡确诊为As的患者(男32例．女18例；if：龄l～30岁．平均10岁)及部分家系成员的主要临床表现、肾功能榆查结果、家系调查情况、肾活检、以及肾和皮肤活榆组织的基膜Q(Ⅳ)链的表达作为临床表型分析素材。应用PCR—SSCP和PcR、直接I)N^测序的方法筛杳、分析基因突变。结果：本组病例显小As患者几乎均表现有血尿(96％)，多数(84％)血尿为

2、肾小球性；伴有蛋白尿或肾病水平蛋白尿的患者分别为82％和22％。榆测到感音神经性耳聋和跟部病变的患者较国外报道相对低(31％和16％懈50％和15％一30％)。多数^s(82％)属于青少年型。94％的皮肤活捡西(Ⅳ)链染色支持X连锁型AS诊断：COL4A5基冈分析琅不以基冈小突变为主；1例AS患儿基因为大缺失，而n缺失涉灶COIA35和COIAA6两个基因．但不伴弥漫性平滑肌瘤。结论：认识我国^s临床表型和基因型特征有助于今后提高井纠正我们对AS认识、诊断乃争治疗水平。关键词Mpart综台征临床表型基因型Ⅳ刊胶原FeaturesofpI·蛐哦yPeaDd辞Ⅱ耐ype

3、inOlineseAlp01．t掣nd舢patientsDL'VGJir．WANGFang，醴／0Slua吐ma，W?lixia，"cANG^ⅥmDepartmento厂Pediatrics，FirstHospital，R}孵Ungers／ty，Be4iing，100034Al炼rRAcT(】Il扣：吐ve：Alponsyndrome(AS)isahereditary．disorderinwhichmutationsareimplicatedinCOTtgA5geneenwvdinga5ctminoftypencollagenThisstudyaimedtoanal

4、yzetheehniealfeaturesofChineseAspatientsandtoiden西delelionsandmutafiortsofCOMA5geneinChineseASpatientsaboutwtfichlittledataisavailableinthelilelNllre．Methodology：FⅡKunrelatedMportsyadmme【AS)patients(32malesand18fF．males)Wel．emlaly日edAtthe5k'tlnelime，screeningformutationsinaUtheexon．s(1

5、to51)oftheCOIAA5geneⅢcaniedoutbyIRIR—SSCPorPCR—direct唧1en∞analysisongenomicDNAfmm33t．mrdatedpatientswlthX—linked-kS(22ii,al∞and1fenlalesJ．Results：．aumlysisoftheclinicaldatashowed96％of山em—tientsprfe,enwdⅥt11hemamriawhile阱％withgfomemlarhemamfia∞nfi珈刊byurinaryRB(：morphologi,-examinationEi

6、ghts'-hoperCenlofpatientsbadpr,Xeinuria．ofwhom22％withanephi'otielevelpmteinuriaHearingimpaimaentwasdetectedin34％ofpatients1mdertakenpouttorteaudiomenyThehearingimpairmentwannotfoundparallelwiththerenalinsufficiency()cmdarah—normalities㈣foundin18％ofpatientsexaminedandwerenotdependento[i

7、them,curringofhearinglossMrout82％ofpa—tientsbeloragedtojuvetfilekindredTtrerewas32％ofthepatientswithout∞bxtsitivefamilyttistoryDetectionof05(n)chaininepidermalbasementmembrane(EBM)州ppon州thediagnosisofASin94％ofthepatientswhohadskinbiopsy．PCR—sscPanaly—sisshowedamobilityshiftin5ofthe16