title: The detection of porphyria in photosensitive patients.
abstract: The biochemical diversity of the various porphyris often leads to incomplete investigation of photosensitive patients and porphyria may be excluded wrongly on the basis of normal urinary porphyrins alone. Establishing a biochemical referral centre for photosensitive patients suspected of having porphyria led to the diagnosis of 5 cases of porphyria cutanea tarda (PCT) and 2 cases of erythropoietic protoporphyria (EPP) among 34 patients referred by dermatologists over a period of 12 months. Iron overload was conformed in 3 the PCT patients by plasma ferritin assay. Studies on the available families of the two EPP patients revealed elevated red cell protoporphyrin levels in several clinically asymptomatic relatives.
mesh_terms: D000293:Adolescent; D000328:Adult; D004912:Erythrocytes / Q000032:analysis; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010787:Photosensitivity Disorders / Q000150:complications* / Q000188:drug therapy; D011164:Porphyrias / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D011166:Porphyrins / Q000652:urine; D011524:Protoporphyrins / Q000097:blood / Q000652:urine
chemical_list: D011166:Porphyrins; D011524:Protoporphyrins; D007501:Iron