• HEP:hepatoerythropoietic porphyria • 肝性红细胞生成性卟啉病
• EPP:erythropoietic protoporphyria • 红细胞生成性原卟啉病
Classification
3 most commonifestations
• AIP:acute intermittent porphyria • 急性间歇性卟啉病
• CEP: congenital erythropoietic porphyria • 先天红细胞生成性卟啉病
• PCT:porphyria cutaneea tarda • 迟发性皮肤卟啉病
• HCP: hereditary coproporphyria • 遗传性粪卟啉病 • VP:variegate porphyria变异性卟啉病
Porphyrias
CH2 CH
CH3
H3C H3C
N
N
Fe
N
N
CH CH2 CH3
CH2 CH2 血红素的结构 COOH
CH2 CH2 COOH
Biosynthetic Pathway of Heme
• XLDPP: x-linked dominant protoporphyria • X染色体连锁显性遗传原卟啉病 • ADP: ALA dehydratase(脱水酶)prophyria
• Wikipedia
本节内容结束
AIP Management
•Treatment of symptoms •Carbohydrate loading •Intravenous Hemin •Liver transplantation •Prevention of acute attacks •Long-term monitoring
Reference
• Uptodate
• Porphyrias: An overview
• Acute Intermittent Porphyria
• Manisha Balwani and Robert J. Desnick, The porphyrias: advances in diagnosis and treatment, Blood. 2012; Volume 120
• S D Whatley and M N Badminton, Role of genetic testing in the management of patients with inherited porphyria and their families, Ann Clin Biochem 2013 50: 204
消化道，神经系统，心血管系统，其他（尿色改变，低Na血症）
AIP diagnosis
Exacerbating factors
Drugs (cytochrome P450,CYP) Hormones Nutrition & Stress
American Porphyria Foundation ( porphyriafoundation ) European Porphyria Network ( porphyria-europe )