多囊肝的病因_诊断及治疗的研究进展

doi:10.16118/j.1008-0392.2015.02.030··2014-05-20QJ0201988—[e-mail][e-mail]、王芹芹综述，熊伍军审校200120【】多囊肝是一种常染色体显性遗传疾病，常与成人多囊肾伴发，早期常无症状，很少影响肝功能，但随病情发展，可出现腹胀、腹痛及腹部包块，影响患者的正常生活。其病因及发病机制尚不明确，目前临床上的治疗方法都不太理想。本研究回顾了近几年国内外有关文献，主要对多囊肝的病因、危险因素、分级、诊断及治疗作一综述，用于指导临床诊断及治疗。【】多囊肝;多囊肾;基因突变【】Ｒ575．2【】A【】1008-0392(2015)02-0129-04ＲesearchprogressonetiologydiagnosisandtreatmentofpolycysticliverWANGQin-qin，XIONGWu-jun(Dept．ofHepatology，EastHospital，TongjiUniversity，Shanghai200120，China)【Abstract】Polycysticliverdiseaseisanautosomaldominantgeneticdiseaseoftenassociatedwithadultpolycystickidneydisease．Thediseaseisoftenasymptomaticintheearlystagerarelyaffectsliverfunctionbutwiththeprogressionofthediseasetheremaybebloatingabdominalpainandabdominalmassaffectingnormallifeofpatients．Theetiologyandpathogenesisarenotclearandtheclinicaltreatmentsarelessdesirable．Thisarticlereviewstherecentliteraturespublishedathomeandabroadonthemaincauseriskfactorsclassificationdiagnosisandtreatmentofpolycysticliverdisease．【Keywords】polycysticliverpolycystickidneydiseasegenemutation。0．05%～0．53%1。、。、、、、、。12PＲKCSHSEC632·921·36220154JOUＲNALOFTONGJIUNIVEＲSITYMEDICALSCIENCEVol.36No.2Apr．2015。4PＲKCSH、SEC63、PKD1、PKD2。PＲKCSH119p13．2β-ⅡGⅡβ、。PＲKCSH3。SEC632。SEC636q21SEC63SEC63p。416%PＲKCSHSEC63。Yang5PＲKCSH。Fedeles6。PKD1PKD2。PKD1PKD21polycystin-1PC12polycystin-2PC2。GⅡβSEC63pPC1、PC2。PKD1PKD2GⅡβSEC63pPC1PＲKCSHSEC63PC1。25%7。LＲP5、。Cnossen8LＲP5。LＲP5WntLＲP5Wnt。。31、23。、、。Fabris9vascularendothelialgrowthfactorVEGF、-1angiopoietin-1Ang-1、-2angiopoietin-2Ang-2VEGFＲ-1、VEGFＲ-2、Tie-2。VEGFVEGFＲs、Ang1Tie-2VEGF。EＲKAKTmTOＲS6S6rp10。cAMP11cAMP。2128000。10～391．69%40～594．79%603．35%。Keimpema1313786%。89%2。92%12。、、。。Gigot143。Ⅰ＞10cm10ⅡⅢ。3。＞1cm＜1cmCTMＲI15。。、·031·36、、ＲNAse、。4。。。、、、、、。4．1药物治疗、cAMP-1insulin-likegrowthfactors-1IGF-1vascularendothelialgrowthfactorVEGF。23～615%～38%16。1。mTOＲ。16mTOＲ19．411．9%14．2%10mTOＲ17-18。4．2手术治疗B。。CT19100ml/。20。、。、。Wang21。GigotⅠ、Ⅱ。。、、、。4．3肝移植Starzl2280%。231594．8%92．3%。40%～50%10%～17%24。5。GigotⅢ。。。·131·2、【】1KarhunenPJTenhuM．AdultpolycysticliverandkidneydiseasesareseparateentitiesJ．ClinGenet198630129-37．2NorioＲ．PolycysticdiseaseofliveranentityofitsownornotJ．ClinGenet198323178-79．3WaandersEVanKriekenJHLamerisALetal．DisruptedcelladhesionbutnotproliferationmediatescystformationinpolycysticliverdiseaseJ．ModPathol200821111293-1302．4WaandersEteMorscheＲHdeManＲAetal．ExtensivemutationalanalysisofPＲKCSHandSEC63broadensJ．Hummutat2006278721-832．5YangAMShihSCChuCHetal．PＲKCSHgeneticmutationwasnotfoundinTaiwanesepatientswithpolycysticliverdiseaseJ．DigDisSci2010553815-819．6FedelesSVTianXGallagherAＲetal．Ageneticinteractionnetworkoffivegenesforhumanpolycystickidneyandliverdiseasesdefinespolycystin-1asthecentraldeterminantofcystformationJ．NatGenet2011437639-647．7JiangSTChiouYYWangEetal．Definingalinkwithautosomal-dominantpolycystickidneydiseaseinmicewithcongenitallylowexpressionofPkd1J．AmJPathol20061681205-220．8CnossenWＲteMorscheＲMHoischenAetal．Whole-exomesequencingrevealsLＲP5mutationsandcanonicalWntsignalingassociatedwithhepaticcystogenesisJ．ProcNatlAcadSci2014111145343-5348．9FabrisLCadamuroMFiorottoＲetal．EffectsofangiogenicfactorsoverexpressionbycholangiocytesinpolycysticliverdiseasesJ．Hepatology20064351001-1012．10QianQDuHKingBFetal．SirolimusreducespolycysticlivervolumeinADPKDpatientsJ．JAmSocNephrol2008193631-638．11vanKeimpemaLdeKoningDBStrijkSPetal．Aspiration-sclerotherapyresultsineffectivecontroloflivervolumeinpatientswithlivercystsJ．DigDisSci20085382251-2257．12．J．2005235553-555．13vanKeimpemaLdeKoningDBvanHBetal．Patientswithisolatedpolycysticliverdiseasereferredtolivercentresclinicalcharacterizationof137casesJ．LiverInt201131192-98．14GigotJFJadoulPQueFetal．Adultpolycysticliverdiseaseisfenestrationthemostadequateoperationforlong-termmanagementJ．AnnSurg19972253286-294．15ChapmanABWeiWJ．ImagingApproachestoPatientswithPolycysticKidneyDiseaseJ．SeminNephrol2011313237-244．16vanKeimpemaLdeManＲADrenthJP．SomatostatinanaloguesreducelivervolumeinpolycysticliverdiseaseJ．Gut20085791338-1339．17SpirliCOkolicsanyiSFiorottoＲetal．Mammaliantargetofrapamycinregulatesvascularendothelialgrowthfactor-dependentlivercystgrowthinpolycystin-2-defectivemiceJHepatology20105151778-1788．18ＲenkenCFischerDCKundtGetal．InhibitionofmTOＲwithsirolimusdoesnotattenuateprogressionofliverandkidneydiseaseinPCKratsJ．NephrolDialTransplant201126192-100．19．CTJ．1995295316-318．20．J．20101811866-867．21WangMQDuanFLiuFYetal．Treatmentofsymptomaticpolycysticliverdiseasetranscathetersuper-selectivehepaticarterialembolizationusingamixtureofNBCAandiodizedoilJ．AbdomImaging2013383465-473．22StarzlTEＲeyesJTzakisAetal．LivertransplantationforpolycysticliverdiseaseJ．ArchSurg19901255575-577．23KeimpemaLVNevensFAdamＲetal．ExcellentsurvivalafterlivertransplantationforisolatedpolycysticliverdiseaseanEuropeanLiverTransplantＲegistrystudyJ．TransplantInternational200124121239-1249．24DrenthJPChrispijnMNagorneyDMetal．MedicalandsurgicaltreatmentoptionsforpolycysticliverdiseaseJ．Hepatology20105262223-2230．·231·36