The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population - 21/08/11
, Victoria E. Parera, PhD
Reprint requests: Alcira Batlle, PhD, Viamonte 1881 10A, 1056 Buenos Aires, Argentina.Buenos Aires, Argentina
Abstract |
Background |
Inherited and environmental factors are implicated in the expression of porphyria cutanea tarda (PCT); the contribution of each factor depends on the population.
Objective |
To provide a review of PCT cases diagnosed in Argentina over 24 years and evaluate the role of different precipitating factors in its pathogenesis.
Methods |
Plasma and urinary porphyrin levels and erythrocyte uroporphyrinogen decarboxylase (URO-D) activity were determined. Potential precipitating factors were identified in each patient. Additional tests for hepatitis C virus (HCV) and hemochromatosis gene mutations were carried out.
Results |
Several factors (mainly alcohol abuse in men and estrogen ingestion in women), alone or combined were identified in our patients. Prevalence of HCV infection was 35.2%. Inherited URO-D deficiency occurs in 25.0% of cases. H63D was the most common hemochromatosis gene mutation. High incidence of PCT associated with HIV infection was found.
Conclusions |
PCT is multifactorial. Therefore, knowledge of all risk factors in each patient is important for the management of the disease.
Le texte complet de cet article est disponible en PDF.Abbreviations : ALA, EC, EDTA, HBV, HCV, HFE, PCR, PCT, RBC, RT-PCR, SD, URO-D
Plan
| Supported by grants from the University of Buenos Aires (UBA) (X-195 and X38), CONICET (005508), the Argentine Science and Technology Agency (05-9042), and the Spanish Fondo de Investigación Sanitaria (FIS. No. 03/0320). Drs Batlle, Rossetti, and Parera are superior, independent, and associate researchers, respectively, in the Career of Scientific Researcher at the Argentine National Research Council (CONICET). Dr Mendez was a CONICET fellow and is supported by a Ramón y Cajal grant (RC/2001/463) from the Spanish Ministerio de Ciencia y Tecnología. Conflicts of interest: None identified. |
Vol 52 - N° 3
P. 417-424 - mars 2005 Retour au numéro
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