porphyria课件.pptVIP

Porphyria The?porphyrias?are a group of rare inherited or acquired disorders of certain?enzymes?that normally participate in the production of??heme. They manifest with either neurological complications or skin problems or occasionally both. The?prevalence?of all types of porphyria taken together has been estimated to be approximately 1 in 25,000 in the?United States。?The worldwide prevalence has been estimated to be somewhere between 1 in 500 to 1 in 50,000 people. Porphyria History Classification Porphyria cutanea tarda Acute intermittent porphyria History The term?porphyria?is derived from the?Greek?πορφ?ρα,?porphyra,? meaning “redish-purple?pigment”, a reference to the color of the porphyrins history History The disease was first explained biochemically by?Felix Hoppe Seyler ?in 1871 History Acute porphyrias were described by the Dutch physician?Barend Stokvis?in 1889 history 1906 - Dr. Max?Dobrschansky?described the first case of acute?porphyria?after a patient had a barbiturate 1949 -Dr. Cecil J. Wats established the basic lab investigation of porphyria “Watson-Schwartz tests” 1961 - Heinrich Gustav Magnus described?erythropoietic?protoporphyria?(EPP) as a genetic disorder Heme Hemes are most commonly recognized as components of?hemoglobin, the red pigment in?blood, but are also found in a number of other biologically important hemoproteins such as?myoglobin,?cytochrome,?catalase, and endothelial nitric oxide synthase. Heme = Fe2+ porphyrin （protoporphyrin IX ) Heme and hemoglobin Hb = heme + 2α+2β X linked protoporphyria X-linked sideroblastic anemia (XLSA). Related genes are ALAS2 gene which found on X-chromosome, the deficient enzyme is aminolevulinate, delta-, synthase 2. It’s inherited in an X-linked pattern. PORPHYRIA - Classification 1)Hepatic 。 ALA dehydratase deficiency porphyria 。 Acute intermittent porphyria (AIP) . Porphyria cutanea tarda(PCT) Familial Acquired 。H