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Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Cell Mol Biol (Noisy-le-grand). 2002 Dec; 48(8):845-52.CM

Abstract

Erythrocyte uroporphyrinogen decarboxylase (UROD) activity was measured to classify 118 Spanish patients with porphyria cutanea tarda (PCT) into three subtypes: sporadic-, familial- and type III-PCT. Seventy-four patients (63%) had eythrocyte UROD activity within the normal range (74% to 126% of the mean activity of 43 healthy controls) and were classified as sporadic-PCT (47%) or as type III-PCT (16%) whenever a family history of PCT was documented. Forty-four patients (37%) had decreased UROD activity and were classified as familial-PCT. The frequency of both familial-PCT and type III-PCT was higher than reported in other countries. The clinical expression of PCT was associated with the coexistence of two or more risk factors in 80% of the sporadic-PCT patients and in 89% of the familial-PCT patients. Hepatitis C virus and alcohol abuse were risk factors frequently found in these patients, being unrelated to age of onset of skin lesions. A heavy alcohol intake was the main risk factor for type III-PCT. Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 gene was more frequently found than the C282Y mutation. Both mutations appeared to play a role as precipitating factors in sporadic-PCT when associated with hepatitis C virus infection and alcohol abuse.

Authors+Show Affiliations

Centro de Investigación, Hospital 12 de Octubre, Francisco Gervás, 9, 28020 Madrid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12699242

Citation

Cruz-Rojo, J, et al. "Precipitating/aggravating Factors of Porphyria Cutanea Tarda in Spanish Patients." Cellular and Molecular Biology (Noisy-le-Grand, France), vol. 48, no. 8, 2002, pp. 845-52.
Cruz-Rojo J, Fontanellas A, Morán-Jiménez MJ, et al. Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. Cell Mol Biol (Noisy-le-grand). 2002;48(8):845-52.
Cruz-Rojo, J., Fontanellas, A., Morán-Jiménez, M. J., Navarro-Ordóñez, S., García-Bravo, M., Méndez, M., Muñoz-Rivero, M. C., & de Salamanca, R. E. (2002). Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. Cellular and Molecular Biology (Noisy-le-Grand, France), 48(8), 845-52.
Cruz-Rojo J, et al. Precipitating/aggravating Factors of Porphyria Cutanea Tarda in Spanish Patients. Cell Mol Biol (Noisy-le-grand). 2002;48(8):845-52. PubMed PMID: 12699242.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. AU - Cruz-Rojo,J, AU - Fontanellas,A, AU - Morán-Jiménez,M J, AU - Navarro-Ordóñez,S, AU - García-Bravo,M, AU - Méndez,M, AU - Muñoz-Rivero,M C, AU - de Salamanca,R Enríquez, PY - 2003/4/18/pubmed PY - 2003/9/27/medline PY - 2003/4/18/entrez SP - 845 EP - 52 JF - Cellular and molecular biology (Noisy-le-Grand, France) JO - Cell. Mol. Biol. (Noisy-le-grand) VL - 48 IS - 8 N2 - Erythrocyte uroporphyrinogen decarboxylase (UROD) activity was measured to classify 118 Spanish patients with porphyria cutanea tarda (PCT) into three subtypes: sporadic-, familial- and type III-PCT. Seventy-four patients (63%) had eythrocyte UROD activity within the normal range (74% to 126% of the mean activity of 43 healthy controls) and were classified as sporadic-PCT (47%) or as type III-PCT (16%) whenever a family history of PCT was documented. Forty-four patients (37%) had decreased UROD activity and were classified as familial-PCT. The frequency of both familial-PCT and type III-PCT was higher than reported in other countries. The clinical expression of PCT was associated with the coexistence of two or more risk factors in 80% of the sporadic-PCT patients and in 89% of the familial-PCT patients. Hepatitis C virus and alcohol abuse were risk factors frequently found in these patients, being unrelated to age of onset of skin lesions. A heavy alcohol intake was the main risk factor for type III-PCT. Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 gene was more frequently found than the C282Y mutation. Both mutations appeared to play a role as precipitating factors in sporadic-PCT when associated with hepatitis C virus infection and alcohol abuse. SN - 0145-5680 UR - https://www.unboundmedicine.com/medline/citation/12699242/Precipitating/aggravating_factors_of_porphyria_cutanea_tarda_in_Spanish_patients_ L2 - http://www.diseaseinfosearch.org/result/5879 DB - PRIME DP - Unbound Medicine ER -