Porphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.
Introduction: Porphyria cutanea tarda (PCT), the most common porphyria, is caused by a decreased activity of uroporphyrinogen decarboxylase (UROD). PCT is gener ally sporadic, but in about 25% of cases, the disease is transmitted as an autosomal dominant trait (familial PCT). Few cases of PCT with o...
| Published in: | Medicina (Buenos Aires) Vol. 85; no. 6; pp. 1261 - 1272 |
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| Main Authors: | , , , , |
| Format: | Article |
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Medicina (Buenos Aires)
nov/dic2025
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| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=lth&AN=192796535&site=ehost-live header: @attributes: shortDbName: lth uiTerm: 192796535 longDbName: MedicLatina uiTag: AN controlInfo: bkinfo: jinfo: jid: 00257680 50C2 jtl: Medicina (Buenos Aires) issn: 00257680 maglogo: N pubinfo: dt: nov/dic2025 vid: 85 iid: 6 pid: 39353 pub: Medicina (Buenos Aires) artinfo: ui: 192796535 ppf: 1261 ppct: 11 formats: fmt: – @attributes: type: T – @attributes: type: P size: 1MB tig: atl: Porphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina. aug: au: Mendez, Manuel Varela, Laura Melito, Viviana Buzaleh, Ana María Parera, Victoria affil: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), Universidad de Buenos Aires-CONICET, Hospital de Clínicas José de San Martín, Buenos Aires, Argentina Instituto de Investigación Hospital 12 de Octubre (imas12) Madrid, España Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales (FCEN)-UBA, Buenos Aires, Argentina su: Porphyria Juvenile diseases Skin diseases Epidemiology Genetics Argentina sug: subj: Argentina Porphyria Juvenile diseases Skin diseases Epidemiology Genetics keyword: Childhood Genetic-hetero geneity Porphyria cutanea tarda Precipitating-factors Uroporphyrinogen-decarboxylase Factores-precipitantes Heterogenei dad-genética Infancia Porfiria cutánea tardía Uroporfirinógeno-decarboxilasa ab: Introduction: Porphyria cutanea tarda (PCT), the most common porphyria, is caused by a decreased activity of uroporphyrinogen decarboxylase (UROD). PCT is gener ally sporadic, but in about 25% of cases, the disease is transmitted as an autosomal dominant trait (familial PCT). Few cases of PCT with onset in childhood have been reported to date. The aim was to perform a ret rospective analysis of these rare cases, including all patients diagnosed with PCT from 1977 to present, with disease onset occurring before the age of 18. Materials and methods: We analyzed 28 patients, 15 males and 13 females, ranging from 3 to 16 years old. Results: Characteristic biochemical alterations, such as elevated urinary levels of porphyrins with typical excretion pattern, high plasma porphyrin index, reduced erythrocyte UROD activity, and typical cutaneous lesions of PCT were observed in all patients. Molecular analysis revealed the genetic heterogeneity inherent to PCT, with certain variants being prominent within the Argentin ian cohort. Potential precipitating factors of the disease were also described. Discussion: This study provides a comprehensive analysis of childhood-onset PCT in the Argentinian population, shedding light on both genetic and environ mental factors contributing to the disease. We empha size the crucial need for early diagnosis, particularly in pediatric cases, and remark on the importance of genetic studies among family members to prevent the delayed recognition of PCT in high-risk individuals. Additionally, the study discusses the role of environmental factors in disease onset and the importance of carefully monitor ing drug use in PCT patients. Introducción: La porfiria cutánea tardía (PCT), la forma más común de porfiria, es causada por la disminución de la actividad de la uroporfirinógeno descarboxilasa (UROD). Aunque generalmente es esporádica, en el 25% de los casos se transmite en forma autosómica dominante (PCT familiar). Se han documentado pocos casos de PCT con inicio en la infancia. El objetivo de este estudio fue realizar un análisis retrospectivo de estos casos raros incluyendo todos los pacientes diagnosticados con PCT desde 1977 a la fecha, con desencadenamiento antes de los 18 años. Materiales y métodos: Se analizaron 28 pacientes (15 varones, 13 mujeres), con manifestación entre 3 y 16 años. Resultados: Se observaron alteraciones bioquímicas características, como niveles elevados de porfirinas urinarias con un patrón de excreción característico, alto índice de porfirinas plasmáticas, actividad redu cida de UROD eritrocitaria y lesiones cutáneas típicas en todos los pacientes. El análisis molecular reveló la heterogeneidad genética de la PCT, con ciertas variantes predominantes dentro de la cohorte argentina. También se describieron factores precipitantes de la enfermedad. Discusión: Este estudio proporciona un análisis com pleto de la PCT de inicio infantil en la población argenti na, destacando tanto los factores genéticos como ambien tales que contribuyen a su manifestación. Subrayamos la necesidad de un diagnóstico temprano, especialmente en los casos pediátricos, y la importancia de los estudios genéticos entre familiares para prevenir el desencadena miento de la PCT en individuos de alto riesgo. pubtype: Academic Journal doctype: Article src: R language: English refInfo: copyright: @attributes: flag: Y custom: Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. item: Medicina (Buenos Aires) holder: Medicina (Buenos Aires) dt: @attributes: year: 2025 holdings: @attributes: islocal: N |
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