Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology.
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.
Bonkovsky
H L
HL
Division of Digestive Disease and Nutrition, University of Massachusetts Medical Center, Worcester, USA.
Barnard
G F
GF
D000208:Acute Disease; D003937:Diagnosis, Differential; D005821:Genetic Techniques; D006801:Humans; D011164:Porphyrias / Q000175:diagnosis*; D011166:Porphyrins / Q000032:analysis
D011166:Porphyrins