Acquired and Inherited Porphyria: |
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Authors: | P. H. Magnin M.D. A. M. del C. Batlle M.D. E. A. Wider de Xifra M.D. M. Lenczner M.D. V. E. Parera M.D. A. M. Steela M.D. |
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Affiliation: | From The Cåtedra de Dermatologia, Univerisdad de Buenos Aires, Hospital Ramos Mejia. and Centra de Investigaciones sobre Porfirinas y Porfirias, Universidad de Buenos Aires y Consejo Nacional de Investigaciones Cientificas y Técnicas, Buenos Aires, Argentina |
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Abstract: | Inheritance in 30 cases of porphyria cutanea tarda (PCT) and their relatives was investigated. Seventeen families were studied using the clinical criteria, quantitation and thin layer chromatography of urinary porphyrins. Thirteen families (13 propositus and 48 relatives) were investigated by using the above criteria and in vitro porphyrin biosynthesis by erythrocytes from δ-aminolevulinic acid. Three different types of PCT were identified: overt, subclinical and latent. Among 61 members examined, 13 had overt PCI. In six families, ten members had subclinical PCT and six latent PCT showing that in these six families PCT was a hereditary disorder. In seven other families inheritance could not be demonstrated. |
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