卟啉病詳細講解課件

1、第1頁，共15頁。 PorphyriasPUMC07 DaiWei 13-12-24 第2頁，共15頁。血紅素的結(jié)構(gòu)第3頁，共15頁。Biosynthetic Pathway of Heme第4頁，共15頁。第5頁，共15頁。XLDPP: x-linked dominant protoporphyria X染色體連鎖顯性遺傳原卟啉病ADP: ALA dehydratase(脫水酶)prophyria AIP:acute intermittent porphyria 急性間歇性卟啉病CEP: congenital erythropoietic porphyria 先天紅細胞生成性卟啉病PCT:p

2、orphyria cutaneea tarda 遲發(fā)性皮膚卟啉病HCP: hereditary coproporphyria 遺傳性糞卟啉病VP:variegate porphyria變異性卟啉病HEP:hepatoerythropoietic porphyria 肝性紅細胞生成性卟啉病EPP:erythropoietic protoporphyria 紅細胞生成性原卟啉病第6頁，共15頁。Classification第7頁，共15頁。3 most common type第8頁，共15頁。AIP clinical manifestations消化道，神經(jīng)系統(tǒng)，心血管系統(tǒng)，其他（尿色改變，低Na

3、血癥）第9頁，共15頁。AIP diagnosis第10頁，共15頁。Exacerbating factorsDrugs (cytochrome P450,CYP)HormonesNutrition & StressAmerican Porphyria Foundation () European Porphyria Network ()第11頁，共15頁。第12頁，共15頁。AIP ManagementTreatment of symptomsCarbohydrate loadingIntravenous HeminLiver transplantationPrevention of acu

4、te attacksLong-term monitoring第13頁，共15頁。Referencewww.UPorphyrias: An overviewAcute Intermittent PorphyriaManisha Balwani and Robert J. Desnick, The porphyrias: advances in diagnosis and treatment, Blood. 2012; Volume 120S D Whatley and M N Badminton, Role of genetic testing in the management of patients with inherited porphyria and their fam