title: Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology.
abstract: For cost-effective diagnosis of porphyric syndromes, a logical stepwise approach is best. If neurovisceral features suggest an acute porphyric syndrome, a rapid screening test for urinary porphobilinogen should be performed. If clinical features suggest a cutaneous porphyria, then for solar urticaria and acute photosensitivity (suggesting protoporphyria) screening tests for increased erythrocytic porphyrins should be done; for vesiculobullous formation (suggesting porphyria cutanea tarda, hereditary coproporphyria, or variegate porphyria) a screening test for urinary porphyrins should be done. Positive screening tests should be confirmed with targeted quantitative testing. Enzymatic assays and DNA-based testing are not usually needed for rapid diagnosis or management of symptomatic subjects, but they are useful for kindred evaluation and genetic counseling.
authors.affiliation: Division of Digestive Disease and Nutrition, University of Massachusetts Medical Center, Worcester, USA.
authors.forename: H L
authors.initials: HL
authors.lastname: Bonkovsky
authors.forename: G F
authors.initials: GF
authors.lastname: Barnard
mesh_terms: D000208:Acute Disease; D003937:Diagnosis, Differential; D005821:Genetic Techniques; D006801:Humans; D011164:Porphyrias / Q000175:diagnosis*; D011166:Porphyrins / Q000032:analysis
chemical_list: D011166:Porphyrins