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1、familialamyloidpolyneuropathy1.JPeripherNervSyst.2015Dec13.doi:10.1111jns.12153.[Epubaheadofprint]“Redflag“symptomclustersintransthyretinfamilialamyloidpolyneuropathy.ConceioI(1)GonzlezDuarteA(2)ObiciL(3)SchtHH(4)Simonea

2、uD(5)OngML(6)AmassL(6).Authinfmation:(1)CHLNHospitaldeSantaMariaClinicalTranslationalPhysiologyUnitPhysiologyInstituteFacultyofMedicineIMMLisbonPtugal.(2)InstitutoNacionaldeCienciasMdicasyNutricinSalvadZubirnMxicoCityMxi

3、co.(3)AmyloidosisResearchTreatmentCenterFondazioneIRCCSPoliclinicoSanMatteoPaviaItaly.(4)KlinikfrTransplantationsmedizinUniversittsklinikumMnsterMnsterGermany.(5)PfizerIOParisFrance.(6)PfizerIncNewYkNYUSA.BACKGROUND:Tran

4、sthyretinfamilialamyloidpolyneuropathy(TTRFAP)isarareprogressivelifethreateninghereditarydisdercausedbymutationsinthetransthyretingeneacterizedbyextracellulardepositionoftransthyretinderivedamyloidfibrilsinperipheralauto

5、nomicnervesheartothergans.TTRFAPisfrequentlydiagnosedlatebecausethediseaseisdifficulttorecognizeduetophenotypicheterogeneity.METHODS:BasedonpublishedliteratureexpertopinionsymptomclusterssuggestingTTRFAParereviewedpracti

6、calguidancetofacilitateearlierdiagnosisisprovided.ResultsconclusionsTTRFAPshouldbesuspectedifprogressiveperipheralsensymotneuropathyisobservedincombinationwithonemeofthefollowing:familyhistyofaneuropathyautonomicdysfunct

7、ioncardiachypertrophygastrointestinalproblemsinexplicableweightlosscarpaltunnelsyndromerenalimpairmentocularinvolvement.IfTTRFAPissuspectedtransthyretingenotypingconfirmationofamyloidintissuebiopsylargesmallfiberassessme

8、ntbynerveconductionstudiesautonomicsystemevaluationscardiactestingshouldbeperfmed.Thisarticleisprotectedbycopyright.Allrightsreserved.P:26663427[PubMedassuppliedbypublisher]2.Transplantation.2015Dec11.[Epubaheadofprint]S

9、urvivalAfterTransplantationinPatientsWithMutationsOtherThanVal30Met:ExtractsFromtheFAPWldTransplantRegistry.HawkinsPN(1)oY(2)DispenzeriA(3)GonzalezDuarteA(4)AdamsD(5)SuhrOB(6).Authinfmation:(1)aNationalAmyloidosisCentreR

10、oyalFreeHospitalUniversityCollegeLondonLondonUK.(2)bDepartmentofNeurologyGraduateSchoolofMedicalSciencesKumamotoUniversityKumamotoJapan.(3)cMayoClinicDivisionofHematologyRochesterMinnesotaUSA.(4)dInstitutoNacionaldeCienc

11、iasMdicasyNutricinSalvadZubirnMexicoCityMexico.(5)eNationalReferenceCentrefFAPAPHPCHUBictreUniversitParisSudINSERMU788ParisFrance.(6)fDepartmentofPublicHealthClinicalMedicineUmeUniversityUmeSweden.Transthyretin(TTR)amylo

12、idosis(ATTRamyloidosis)isamultisystemicmultigenotypicdiseaseresultingfromdepositionofinsolubleATTRamyloidfibrilsinvariousganstissues.Althoughconsideredraretheprevalenceofthisseriousdiseaseislikelyunderestimatedbecausesym

13、ptomscanbenonspecificdiagnosislargelyreliesonamyloiddetectionintissuebiopsies.Treatmentisguidedbywhichtissuesgansareinvolvedalthoughtherapeuticoptionsarelimitedfpatientswithlatestagedisease.Indeedenthusiasmflivertranspla

14、ntationffamilialATTRamyloidosiswithpolyneuropathywasdampenedbypooutcomesamongpatientswithsignificantneurologicaldeficitscardiacinvolvement.Hencethereremainsanunmetmedicalneedfnewtherapies.TheTTRstabilizerstafaisdiflunisa

15、lslowdiseaseprogressioninsomepatientswithATTRamyloidosiswithpolyneuropathythepostulatedsynergisticeffectofdoxycyclinetauroursodeoxycholicacidondissolutionofamyloidisunderinvestigation.Anothertherapeuticapproachistoreduce

16、productionoftheamyloidogenicproteinTTR.PlasmaTTRconcentrationcanbesignificantlyreducedwithISISTTRRxaninvestigationalantisenseoligonucleotidebaseddrugwithpatisiranrevusiranwhichareinvestigationalRNAinterferencebasedtherap

17、euticsthattargettheliver.TheevolvingtreatmentlscapefATTRamyloidosisbringshopeffurtherimprovementsinclinicaloutcomesfpatientswiththisdebilitatingdisease.P:26611723[PubMedinprocess]4.JAmCollCardiol.2015Dec166(21):245166.do

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