Wilson disease 2012

《Wilson disease 2012》由会员上传分享，免费在线阅读，更多相关内容在学术论文-天天文库。

1、ClinicalPracticeGuidelinesEASLClinicalPracticeGuidelines:Wilson’sdiseaseEuropeanAssociationfortheStudyoftheLiver⇑Summarywithacuteliverfailure.Wilson’sdiseaseisnotjustadiseaseofchildrenandyoungadults,butmaypresentatanyage[5].ThisClinicalPracticeGuidelin

2、e(CPG)hasbeendevelopedtoWilson’sdiseaseisageneticdisorderthatisfoundworldwide.assistphysiciansandotherhealthcareprovidersinthediagnosisWilson’sdiseaseisrecognizedtobemorecommonthanprevi-andmanagementofpatientswithWilson’sdisease.Thegoalistoouslythought

3、,withagenefrequencyof1in90–150andaninci-describeanumberofgenerallyacceptedapproachesfordiagno-dence(basedonadultspresentingwithneurologicsymptomssis,prevention,andtreatmentofWilson’sdisease.Recommenda-[6])thatmaybeashighas1in30,000[7].Morethan500distin

4、cttionsarebasedonasystematicliteraturereviewintheMedlinemutationshavebeendescribedintheWilsongene,fromwhich(PubMedversion),Embase(Dialogversion),andtheCochrane380haveaconfirmedroleinthepathogenesisofthedisease[8].Librarydatabasesusingentriesfrom1966to20

5、11.TheGradesofRecommendation,Assessment,Development,andEvaluation(GRADE)systemusedinotherEASLCPGswasusedandsetagainstthesomewhatdifferentgradingsystemusedintheClinicalpresentationAASLDguidelines(Table1AandB).Unfortunately,thereisnotasinglerandomizedcon

6、trolledtrialconductedinWilson’sdis-Themostcommonpresentationsarewithliverdiseaseorneuro-easewhichhasanoptimaldesign.Thus,itisimpossibletoassignpsychiatricdisturbances.Asymptomaticpatientsaremostoftenahighorevenamoderatequalityofevidencetoanyoftheques-d

7、etectedbyfamilyscreening.tionsdealtwithintheseguidelines.TheevaluationismostlybasedonlargecaseserieswhichhavebeenreportedwithintheAgeatonsetofsymptomslastdecades.Ó2011EuropeanAssociationfortheStudyoftheLiver.PublishedWilson’sdiseasemaypresentsymptomati

8、callyatanyage,byElsevierB.V.Allrightsreserved.althoughthemajoritypresentsbetweenages5and35.Theyoun-gestpatientreportedwithcirrhosisduetoWilson’sdiseasewas3-years-old[9].About3%ofpatientspresentbeyondthefourthIntroductiondecade,eitherwit