更新观念,提高我国肝豆状核变性诊治的临床水平-论文.pdf

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1、杨旭．更新观念，提高我国肝豆状核变性诊治的临床水平905更新观念，提高我国肝豆状核变性诊治的临床水平杨旭(中南大学肝病研究所，湘雅二医院肝病研究中心，长沙410011)摘要：肝豆状核变性是一少见而可治疗的遗传性疾病，介绍本病最新进展和作者多年的经验，讨论当前我国这一疾病临床中值得注意的问题。大量研究表明，近年本病病例增多，年龄范围更广，肝型及不典型病例更多，诊断难度大，误诊误治常见，值得重视。高度警惕是防止误诊的关键，实验检查是诊断本病不可缺少的依据。K—F环、铜蓝蛋白、尿铜、肝铜、基因检查等对本病的诊断均有重要

2、意义。其中肝铜的特异性和敏感性最高，达95％；基因检查特异性100％，敏感性60％一85％。怀疑本病的患者应进行系统铜代谢检查。严格掌握诊断标准，积分／>4可诊断本病，切勿凭某项指标诊断本病。不论病情轻重，确诊后即开始治疗。危重患者不要因为药物副作用放弃治疗，暴发型应尽快进行快速驱铜治疗，治疗无效的急慢性肝衰竭患者可行肝移植。本病长期预后良好。要认识本病新的特点，更新观念，提高我国肝豆状核变性诊治的临床水平。关键词：肝豆状核变性中图分类号：R742．4文献标志码：A文章编号：1001—5256(2013)12—0

3、905—04UpdateondiagnosisandtreatmentofWilsondiseaseinChinaYANGXu．(InstituteofHepatology&LiverDiseaseResearchCenter，SecondXiangyaHospital，SouthCentralUniversity，Changsha410011，China)Abstract：Wilsondisease(WD)isarareandtreatablegeneticdiseasethatisfoundworldwide

4、．ThelatestprogressandauthorSexperienceinthisfieldaredescribed，andsomenotableclinicalissuesconcerningthisdiseaseinChinaarediscussed．Manystudieshaveshownthatinrecentyears，thenumberandagerangeofWDcaseshaveincreased，andmoreandmoreliver—typeandatypicalcaseshavebee

5、nidenti—fied；WDisdifficulttodiagnose，andmisdiagnosedcasesarecommonlyseen．Heightenedalertnessisthekeytothepreventionofmisdiagno—sis，andlaboratorytestingisanindispensiblebasisfordiagnosisofthisdisease．Kayser—Fleischerring，ceruloplasmin，urinarycopper，he—paticcop

6、per，andgenetictestingareofgreatsignificanceforthediagnosisofWD．HepaticcopperhasthehighestspecificityandsensitivityforWD，reaching95％，andgenetictestinghasaspecificityof100％andasensitivityof60％一85％forWD．PatientssuspectedofWDshouldundergosystemiccoppermetabolicex

7、amination．Diagnosticcriteriashouldbestrictlyfollowed，andWDcanbediagnosedifthetotalscoreisnotlowerthan4；diagnosiscannotbebasedonasingletest．Oncethediagnosisisconfirmed，therapyisstartedregardlessofthese—verityofdisease．Severecasesarenotencouragedtodiscontinueth

8、erapyduetothesideeffectsofdrugs．Fulminatingcasesshouldreceiverapiddecoppertreatmentassoonaspossible．LivertransplantationmaybeconsideredforpatientswithacuteOrchronicliverfailureunre—sponsi