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1、familialamyloidpolyneuropathy1.JPeripherNervSyst.2015Dec13.doi:10.1111/jns.12153.[Epubaheadofprint]"Red-flag"symptomclustersintransthyretinfamilialamyloidpolyneuropathy.ConceiçãoI(1),González-DuarteA(2),ObiciL(3),SchmidtHH(4),SimoneauD(5),OngML(6),AmassL(6).Authorinformation:(1)CHLN-Ho
2、spitaldeSantaMaria,andClinicalandTranslationalPhysiologyUnit,PhysiologyInstitute,FacultyofMedicine-IMM,Lisbon,Portugal.(2)InstitutoNacionaldeCienciasMédicasyNutriciónSalvadorZubirán,MéxicoCity,México.(3)AmyloidosisResearchandTreatmentCenter,FondazioneIRCCSPoliclinicoSanMatteo,Pavia,Ita
3、ly.(4)KlinikfürTransplantationsmedizin,UniversitätsklinikumMünster,Münster,Germany.(5)PfizerIO,Paris,France.(6)PfizerInc,NewYork,NY,USA.BACKGROUND:Transthyretinfamilialamyloidpolyneuropathy(TTR-FAP)isarare,progressive,life-threatening,hereditarydisordercausedbymutationsinthetransthyret
4、ingeneandcharacterizedbyextracellulardepositionoftransthyretin-derivedamyloidfibrilsinperipheralandautonomicnerves,heart,andotherorgans.TTR-FAPisfrequentlydiagnosedlatebecausethediseaseisdifficulttorecognizeduetophenotypicheterogeneity.METHODS:Basedonpublishedliteratureandexpertopinion
5、,symptomclusterssuggestingTTR-FAParereviewed,andpracticalguidancetofacilitateearlierdiagnosisisprovided.ResultsandconclusionsTTR-FAPshouldbesuspectedifprogressiveperipheralsensory-motorneuropathyisobservedincombinationwithoneormoreofthefollowing:familyhistoryofaneuropathy,autonomicdysf
6、unction,cardiachypertrophy,gastrointestinalproblems,inexplicableweightloss,carpaltunnelsyndrome,renalimpairment,orocularinvolvement.IfTTR-FAPissuspected,transthyretingenotyping,confirmationofamyloidintissuebiopsy,large-andsmall-fiberassessmentbynerveconductionstudiesandautonomicsysteme
7、valuations,andcardiactestingshouldbeperformed.Thisarticleisprotectedbycopyright.Allrightsreserved.PMID:26663427[PubMed-assuppliedbypublisher]2.Transplantation.2015Dec11.[Epubaheadofprint]SurvivalAfterTransplantationinPatientsWithMutationsOtherThanVal30Met:ExtractsFromtheFAPWorldTrans
