Acquired and Inherited Porphyria
| Autor: | V. E. Parera, A. M. C. Batlle, E. A. Wider Xifra, A. M. Steela, P. H. Magnin, M. Lenczner |
|---|---|
| Rok vydání: | 1982 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Erythrocytes Porphyrins Dermatology Skin Diseases Porphyrias Internal medicine parasitic diseases medicine Humans Uroporphyrinogen Decarboxylase Porphyria cutanea tarda Subclinical infection Genetics business.industry Porphyrin biosynthesis Aminolevulinic Acid bacterial infections and mycoses medicine.disease Pedigree Porphyria Female Chromatography Thin Layer business hormones hormone substitutes and hormone antagonists |
| Zdroj: | International Journal of Dermatology. 21:142-147 |
| ISSN: | 1365-4632 0011-9059 |
| DOI: | 10.1111/j.1365-4362.1982.tb02060.x |
| Popis: | 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 delta-aminolevulinic acid. Three different types of PCT were identified: overt, subclinical, and latent. Among 61 members examined, 13 had overt PCT. 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text