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Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría.

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Title: Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría.
Alternate Title: Expert Consensus on Evidence-Based Recommendations for the Diagnosis, Treatment, and Follow-Up of Fabry Disease in Pediatric Patients.
Consenso de especialistas colombianos sobre recomendações baseadas em evidências para o diagnóstico, tratamento e acompanhamento da doença de Fabry em pediatria.
Authors: Rodríguez, Richard Baquero1,2,3 richard.baquero@udea.edu.co, Serrano Gayubo, Ana Katherina3,4,5,6, Prieto, Juan Carlos7,8, Cárdenas Aguilera, Juan Guillermo3,9,10,11, Rodríguez Cuéllar, Carmen Inés3,12,13,14,15, ReinaÁvila, María Fernanda10,16,17, Estévez Capacho, Mayra Alexandra3,18, Mateus, Heidy19,20, González, Maylin Valencia3,21,22, Chacón Acevedo, Kelly Rocío23, Gutiérrez Sepúlveda, María Paula23, Germain, Dominique Paul24, Politei, Juan Manuel25, Fainboim, Alejandro Fabián26, Rodríguez, Magdalena Cerón27, Cabrera, Gustavo28, Ospina, Edicson Ruiz29,30,31, Carrascal Guzmán, Martha Isabel3,32,33,34, Martínez Cáceres, Lida Esperanza3,35,36, Ospina Lagos, Sandra Yaneth29
Source: Revista Ciencias de la Salud. Sep-Dic2023, Vol. 21 Issue 3, p1-24. 24p.
Subjects: PROFESSIONAL practice, PATIENT aftercare, BIOMARKERS, EVIDENCE-based medicine, PEDIATRICS, DESCRIPTIVE statistics, QUALITY of life, DECISION making in clinical medicine, ANGIOKERATOMA corporis diffusum, DELPHI method, DISEASE management, EARLY diagnosis
Abstract (English): Background: Fabry disease (fd) is a rare X-linked disease characterized by the accumulation of glycosphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of fd in pediatric patients (<18 years of age). Materials and Methods: A study of databases and gray literature was conducted in 2010, including clinical practice guidelines, systematic reviews, and primary research. The type of evidence was used to determine the quality of evidence. The recommendations were submitted to an expert consensus using the modified Delphi process. The agreement was set at 80%. Conclusions: The recommendations emerging from this expert consensus will enable the standardization of care provision for pediatric patients with fd in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Antecedentes: la enfermedad de Fabry (ef) es una enfermedad rara ligada a X secundaria al depósito lisosomal de glicoesfingolípidos, debido a la deficiencia de la enzima alfa galactosidasa A (α-Gal A). A pesar de su baja frecuencia, es una condición que afecta la calidad de vida de los pacientes y disminuye su esperanza de vida. Objetivo: generar recomendaciones informadas para el diagnóstico y tratamiento de pacientes pediátricos (menores de 18 años) con ef. Material y Métodos: revisión de literatura en bases de datos y literatura gris a partir de 2010, incluyendo guías de práctica clínica, revisiones sistemáticas y estudios primarios. La calidad de evidencia se evaluó de acuerdo con el tipo. Las recomendaciones se sometieron a consenso de expertos a través de metodología Delphi modificada. El acuerdo se definió a partir del 80 %. Resultados: A partir del análisis de la evidencia recolectada se formularon un total de 45 recomendaciones para tamización, diagnóstico y tratamiento de paciente pediátrico con ef. El panel revisor estuvo conformado por once expertos en el tema. Las recomendaciones fueron aprobadas con puntuaciones entre 82.3 % y 100 %. Conclusiones: las recomendaciones resultantes del consenso de expertos permitirán la toma de decisiones clínicas y estandarización de la práctica en la atención de pacientes pediátricos con ef en el país y la región. El diagnóstico temprano y oportuno garantiza una disminución del impacto en la calidad de vida de los pacientes y sus familiares. [ABSTRACT FROM AUTHOR]
Abstract (Portuguese): Fundamento: a doença de Fabry (df) é uma rara doença ligada ao cromossomo X secundária à deposição lisossômica de glicoesfingolipídeos devido à deficiência da enzima alfa galactosidase A (α-Gal A). Apesar de sua baixa frequência, é uma condição que afeta a qualidade de vida dos pacientes e diminui sua expectativa de vida. Objetivo: gerar recomendações baseadas em evidências para o diagnóstico e tratamento de pacientes pediátricos (com menos de 8 anos de idade) com df. Materais e Métodos: foi realizada uma revisão da literatura em bases de dados e literatura cinza a partir de 2010, incluindo diretrizes de prática clínica, revisões sistemáticas e estudos primários. A qualidade da evidência foi avaliada de acordo com o tipo de evidência. As recomendações foram submetidas ao consenso de especialistas usando a metodologia Delphi modificada. A concordância foi definida a partir de 80%. Resultados: com base na análise das evidências coletadas, foram formuladas um total de 45 recomendações para triagem, diagnóstico e tratamento de pacientes pediátricos com doença de Fabry. O painel de revisão foi composto por onze especialistas no assunto. As recomendações foram aprovadas com pontuações entre 82,3% e 100%. Conclusões: as recomendações resultantes do consenso de especialistas permitirão a tomada de decisão clínica e a padronização da prática no cuidado de pacientes pediátricos com df em nível nacional e regional; o diagnóstico precoce e oportuno garante a redução do impacto na qualidade de vida dos pacientes e seus familiares. [ABSTRACT FROM AUTHOR]
Copyright of Revista Ciencias de la Salud is the property of Colegio Mayor de Nuestra Senora del Rosario 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. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Background: Fabry disease (fd) is a rare X-linked disease characterized by the accumulation of glycosphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of fd in pediatric patients (&lt;18 years of age). Materials and Methods: A study of databases and gray literature was conducted in 2010, including clinical practice guidelines, systematic reviews, and primary research. The type of evidence was used to determine the quality of evidence. The recommendations were submitted to an expert consensus using the modified Delphi process. The agreement was set at 80%. Conclusions: The recommendations emerging from this expert consensus will enable the standardization of care provision for pediatric patients with fd in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: Antecedentes: la enfermedad de Fabry (ef) es una enfermedad rara ligada a X secundaria al dep&#243;sito lisosomal de glicoesfingol&#237;pidos, debido a la deficiencia de la enzima alfa galactosidasa A (α-Gal A). A pesar de su baja frecuencia, es una condici&#243;n que afecta la calidad de vida de los pacientes y disminuye su esperanza de vida. Objetivo: generar recomendaciones informadas para el diagn&#243;stico y tratamiento de pacientes pedi&#225;tricos (menores de 18 a&#241;os) con ef. Material y M&#233;todos: revisi&#243;n de literatura en bases de datos y literatura gris a partir de 2010, incluyendo gu&#237;as de pr&#225;ctica cl&#237;nica, revisiones sistem&#225;ticas y estudios primarios. La calidad de evidencia se evalu&#243; de acuerdo con el tipo. Las recomendaciones se sometieron a consenso de expertos a trav&#233;s de metodolog&#237;a Delphi modificada. El acuerdo se defini&#243; a partir del 80 %. Resultados: A partir del an&#225;lisis de la evidencia recolectada se formularon un total de 45 recomendaciones para tamizaci&#243;n, diagn&#243;stico y tratamiento de paciente pedi&#225;trico con ef. El panel revisor estuvo conformado por once expertos en el tema. Las recomendaciones fueron aprobadas con puntuaciones entre 82.3 % y 100 %. Conclusiones: las recomendaciones resultantes del consenso de expertos permitir&#225;n la toma de decisiones cl&#237;nicas y estandarizaci&#243;n de la pr&#225;ctica en la atenci&#243;n de pacientes pedi&#225;tricos con ef en el pa&#237;s y la regi&#243;n. El diagn&#243;stico temprano y oportuno garantiza una disminuci&#243;n del impacto en la calidad de vida de los pacientes y sus familiares. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Portuguese)
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  Data: Fundamento: a doen&#231;a de Fabry (df) &#233; uma rara doen&#231;a ligada ao cromossomo X secund&#225;ria &#224; deposi&#231;&#227;o lisoss&#244;mica de glicoesfingolip&#237;deos devido &#224; defici&#234;ncia da enzima alfa galactosidase A (α-Gal A). Apesar de sua baixa frequ&#234;ncia, &#233; uma condi&#231;&#227;o que afeta a qualidade de vida dos pacientes e diminui sua expectativa de vida. Objetivo: gerar recomenda&#231;&#245;es baseadas em evid&#234;ncias para o diagn&#243;stico e tratamento de pacientes pedi&#225;tricos (com menos de 8 anos de idade) com df. Materais e M&#233;todos: foi realizada uma revis&#227;o da literatura em bases de dados e literatura cinza a partir de 2010, incluindo diretrizes de pr&#225;tica cl&#237;nica, revis&#245;es sistem&#225;ticas e estudos prim&#225;rios. A qualidade da evid&#234;ncia foi avaliada de acordo com o tipo de evid&#234;ncia. As recomenda&#231;&#245;es foram submetidas ao consenso de especialistas usando a metodologia Delphi modificada. A concord&#226;ncia foi definida a partir de 80%. Resultados: com base na an&#225;lise das evid&#234;ncias coletadas, foram formuladas um total de 45 recomenda&#231;&#245;es para triagem, diagn&#243;stico e tratamento de pacientes pedi&#225;tricos com doen&#231;a de Fabry. O painel de revis&#227;o foi composto por onze especialistas no assunto. As recomenda&#231;&#245;es foram aprovadas com pontua&#231;&#245;es entre 82,3% e 100%. Conclus&#245;es: as recomenda&#231;&#245;es resultantes do consenso de especialistas permitir&#227;o a tomada de decis&#227;o cl&#237;nica e a padroniza&#231;&#227;o da pr&#225;tica no cuidado de pacientes pedi&#225;tricos com df em n&#237;vel nacional e regional; o diagn&#243;stico precoce e oportuno garante a redu&#231;&#227;o do impacto na qualidade de vida dos pacientes e seus familiares. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Revista Ciencias de la Salud is the property of Colegio Mayor de Nuestra Senora del Rosario and its content may not be copied or emailed to multiple sites without the copyright holder&#39;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. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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            NameFull: Ospina Lagos, Sandra Yaneth
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      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: Sep-Dic2023
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-print
              Value: 16927273
          Numbering:
            – Type: volume
              Value: 21
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Revista Ciencias de la Salud
              Type: main
ResultId 1