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PorphyriasPUMC07DaiWei13-12-24NNNNH3CH3CCH3CH3CH2CH2COOHCH2CH2COOHFeCHCH2CH2CH血红素的结构BiosyntheticPathwayofHeme•XLDPP:x-linkeddominantprotoporphyriaX染色体连锁显性遗传原卟啉病•ADP:ALAdehydratase(脱水酶)prophyria•AIP:acuteintermittentporphyria急性间歇性卟啉病•CEP:congenitalerythropoieticporphyria先天红细胞生成性卟啉病•PCT:porphyriacutaneeatarda迟发性皮肤卟啉病•HCP:hereditarycoproporphyria遗传性粪卟啉病•VP:variegateporphyria变异性卟啉病•HEP:hepatoerythropoieticporphyria肝性红细胞生成性卟啉病•EPP:erythropoieticprotoporphyria红细胞生成性原卟啉病Classification3mostcommontypeAIPclinicalmanifestations消化道，神经系统，心血管系统，其他（尿色改变，低Na血症）AIPdiagnosisExacerbatingfactorsDrugs(cytochromeP450,CYP)HormonesNutrition&StressAmericanPorphyriaFoundation(www.porphyriafoundation.com)EuropeanPorphyriaNetwork(www.porphyria-europe.com)AIPManagement•Treatmentofsymptoms•Carbohydrateloading•IntravenousHemin•Livertransplantation•Preventionofacuteattacks•Long-termmonitoringReference•www.Uptodate.com–Porphyrias:Anoverview–AcuteIntermittentPorphyria•ManishaBalwaniandRobertJ.Desnick,Theporphyrias:advancesindiagnosisandtreatment,Blood.2012;Volume120•SDWhatleyandMNBadminton,Roleofgenetictestinginthemanagementofpatientswithinheritedporphyriaandtheirfamilies,AnnClinBiochem201350:204•Wikipedia