The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.

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 precipitat...

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Autores principales: Mendez, Manuel, Rossetti, María Victoria, Batlle, Alcira María del Carmen, Parera, Victoria Estela
Publicado: 2005
Materias:
hepatitis C antibody
HFE protein, human
HLA antigen class 1
membrane protein
uroporphyrinogen decarboxylase
adolescent
adult
aged
Argentina
article
blood
child
epidemiology
female
genetics
hepatitis C
human
male
metabolism
middle aged
mutation
onset age
pathophysiology
porphyria cutanea tarda
retrospective study
risk factor
Adolescent
Adult
Age of Onset
Aged
Child
Female
Hepatitis C
Hepatitis C Antibodies
Histocompatibility Antigens Class I
Humans
Male
Membrane Proteins
Middle Aged
Mutation
Porphyria Cutanea Tarda
Precipitating Factors
Retrospective Studies
Risk Factors
Uroporphyrinogen Decarboxylase
Acceso en línea:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10976787_v52_n3Pt1_p417_Mendez
http://hdl.handle.net/20.500.12110/paper_10976787_v52_n3Pt1_p417_Mendez
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires
id paper:paper_10976787_v52_n3Pt1_p417_Mendez
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spelling paper:paper_10976787_v52_n3Pt1_p417_Mendez2023-06-08T16:07:10Z The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population. Mendez, Manuel Rossetti, María Victoria Batlle, Alcira María del Carmen Parera, Victoria Estela hepatitis C antibody HFE protein, human HLA antigen class 1 membrane protein uroporphyrinogen decarboxylase adolescent adult aged Argentina article blood child epidemiology female genetics hepatitis C human male metabolism middle aged mutation onset age pathophysiology porphyria cutanea tarda retrospective study risk factor Adolescent Adult Age of Onset Aged Argentina Child Female Hepatitis C Hepatitis C Antibodies Histocompatibility Antigens Class I Humans Male Membrane Proteins Middle Aged Mutation Porphyria Cutanea Tarda Precipitating Factors Retrospective Studies Risk Factors Uroporphyrinogen Decarboxylase 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. Fil:Méndez, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Del C Batlle, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2005 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10976787_v52_n3Pt1_p417_Mendez http://hdl.handle.net/20.500.12110/paper_10976787_v52_n3Pt1_p417_Mendez
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic hepatitis C antibody
HFE protein, human
HLA antigen class 1
membrane protein
uroporphyrinogen decarboxylase
adolescent
adult
aged
Argentina
article
blood
child
epidemiology
female
genetics
hepatitis C
human
male
metabolism
middle aged
mutation
onset age
pathophysiology
porphyria cutanea tarda
retrospective study
risk factor
Adolescent
Adult
Age of Onset
Aged
Argentina
Child
Female
Hepatitis C
Hepatitis C Antibodies
Histocompatibility Antigens Class I
Humans
Male
Membrane Proteins
Middle Aged
Mutation
Porphyria Cutanea Tarda
Precipitating Factors
Retrospective Studies
Risk Factors
Uroporphyrinogen Decarboxylase
spellingShingle hepatitis C antibody
HFE protein, human
HLA antigen class 1
membrane protein
uroporphyrinogen decarboxylase
adolescent
adult
aged
Argentina
article
blood
child
epidemiology
female
genetics
hepatitis C
human
male
metabolism
middle aged
mutation
onset age
pathophysiology
porphyria cutanea tarda
retrospective study
risk factor
Adolescent
Adult
Age of Onset
Aged
Argentina
Child
Female
Hepatitis C
Hepatitis C Antibodies
Histocompatibility Antigens Class I
Humans
Male
Membrane Proteins
Middle Aged
Mutation
Porphyria Cutanea Tarda
Precipitating Factors
Retrospective Studies
Risk Factors
Uroporphyrinogen Decarboxylase
Mendez, Manuel
Rossetti, María Victoria
Batlle, Alcira María del Carmen
Parera, Victoria Estela
The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
topic_facet hepatitis C antibody
HFE protein, human
HLA antigen class 1
membrane protein
uroporphyrinogen decarboxylase
adolescent
adult
aged
Argentina
article
blood
child
epidemiology
female
genetics
hepatitis C
human
male
metabolism
middle aged
mutation
onset age
pathophysiology
porphyria cutanea tarda
retrospective study
risk factor
Adolescent
Adult
Age of Onset
Aged
Argentina
Child
Female
Hepatitis C
Hepatitis C Antibodies
Histocompatibility Antigens Class I
Humans
Male
Membrane Proteins
Middle Aged
Mutation
Porphyria Cutanea Tarda
Precipitating Factors
Retrospective Studies
Risk Factors
Uroporphyrinogen Decarboxylase
description 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.
author Mendez, Manuel
Rossetti, María Victoria
Batlle, Alcira María del Carmen
Parera, Victoria Estela
author_facet Mendez, Manuel
Rossetti, María Victoria
Batlle, Alcira María del Carmen
Parera, Victoria Estela
author_sort Mendez, Manuel
title The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
title_short The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
title_full The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
title_fullStr The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
title_full_unstemmed The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
title_sort role of inherited and acquired factors in the development of porphyria cutanea tarda in the argentinean population.
publishDate 2005
url https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10976787_v52_n3Pt1_p417_Mendez
http://hdl.handle.net/20.500.12110/paper_10976787_v52_n3Pt1_p417_Mendez
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