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The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
J Am Acad Dermatol. 2005 Mar; 52(3 Pt 1):417-24.JA

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.

Authors+Show Affiliations

National Research Institute on Porphyrins and Porphyrias (CIPYP), School of Sciences (FCEyN), University of Buenos Aires (UBA), and the Argentine National Research Council (CONICET), Buenos Aires, Argentina.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15761419

Citation

Méndez, Manuel, et al. "The Role of Inherited and Acquired Factors in the Development of Porphyria Cutanea Tarda in the Argentinean Population." Journal of the American Academy of Dermatology, vol. 52, no. 3 Pt 1, 2005, pp. 417-24.
Méndez M, Rossetti MV, Del C Batlle AM, et al. The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population. J Am Acad Dermatol. 2005;52(3 Pt 1):417-24.
Méndez, M., Rossetti, M. V., Del C Batlle, A. M., & Parera, V. E. (2005). The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population. Journal of the American Academy of Dermatology, 52(3 Pt 1), 417-24.
Méndez M, et al. The Role of Inherited and Acquired Factors in the Development of Porphyria Cutanea Tarda in the Argentinean Population. J Am Acad Dermatol. 2005;52(3 Pt 1):417-24. PubMed PMID: 15761419.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population. AU - Méndez,Manuel, AU - Rossetti,María V, AU - Del C Batlle,Alcira M, AU - Parera,Victoria E, PY - 2005/3/12/pubmed PY - 2005/9/22/medline PY - 2005/3/12/entrez SP - 417 EP - 24 JF - Journal of the American Academy of Dermatology JO - J Am Acad Dermatol VL - 52 IS - 3 Pt 1 N2 - 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. SN - 1097-6787 UR - https://www.unboundmedicine.com/medline/citation/15761419/The_role_of_inherited_and_acquired_factors_in_the_development_of_porphyria_cutanea_tarda_in_the_Argentinean_population_ DB - PRIME DP - Unbound Medicine ER -