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

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

Background: Fabry disease (fD) is a rare X-linked disease characterized by the accumulation of glyco- sphingolipids 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

Fundamento: a doença de Fabry (Df) é uma rara doença ligada ao cromossomo X secundária à deposi- ção 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.

Recomendaciones sobre la vacunación contra SARS-CoV-2 en pacientes en diálisis y lista de espera de trasplante renal

Contexto las personas con diálisis se consideran una población de alto riesgo de infección por SARS-CoV-2, complicaciones y muerte. En Colombia, cerca del 44 % de la población en diálisis es menor de 60 años, adicionalmente, por los mismos retos que ha impuesto la pandemia a los programas de trasplantes, se ha incrementado notoriamente la población joven que debe seguir en diálisis al no tener opción a corto plazo de un trasplante renal, por lo tanto, las limitaciones en el acceso temprano a la vacunación contra SARS-CoV-2 agudizarían los problemas de esta población, provocando pérdidas considerables en años de vida que la vacuna podría salvar. Objetivo el objetivo del presente documento es sintetizar los principales motivos por los que se recomienda la priorización de la vacunación de los pacientes en diálisis crónica y lista de espera para trasplante renal. Metodología se realizó una búsqueda rápida de información sobre la vacunación en pacientes con ERC en diálisis o en espera de trasplante renal. La información resultante fue analizada críticamente por expertos en nefrología para la formulación de recomendaciones. Los resultados de la búsqueda se presentan a manera de síntesis narrativa. Resultados a partir de la información revisada y discutida por los expertos en nefrología se proponen 4 recomendaciones para la vacunación contra el virus SARS-Cov-2. Conclusiones la Asociación Colombiana de Nefrología e Hipertensión Arterial, la Asociación Colombiana de Nefrología Pediátrica y la Asociación Colombiana de Trasplante de Órganos, comprometidos con la salud de los pacientes con enfermedad renal en diálisis y listas de espera de trasplantes en Colombia, se unen a la solicitud mundial de generar recomendaciones para la vacunación contra SARS-CoV-2.

Background People on dialysis are considered a high-risk population for SARS-CoV-2 infection, complications, and death. In Colombia, about 44% of the population on dialysis is under 60 years of age. In addition, due to the same challenges that the pandemic has imposed on transplant programs, the young population that must continue on dialysis has increased markedly, as they have no option in the short term of a kidney transplant, therefore, the limitations in early access to vaccination against SARS-CoV-2 would exacerbate the problems of this population, causing considerable losses in years of life that the vaccine could save. Purpose The objective of this document is to summarize the main reasons why the prioritization of vaccination of patients on chronic dialysis and on the kidney transplant waiting list is recommended. Methodology A rapid search for information on vaccination in patients with CKD on dialysis or awaiting kidney transplantation was performed. The resulting information was critically analyzed by experts in nephrology for the formulation of recommendations. The search results are presented as a narrative synthesis. Results Based on the information reviewed and discussed by nephrology experts, 4 recommendations are proposed for vaccination against the SARS-Cov-2 virus. Conclusions The Colombian Association of Nephrology and Arterial Hypertension (ASOCOLNEF), the Colombian Association of Pediatric Nephrology (ACONEPE) and the Colombian Association of Organ Transplantation (ACTO), committed to the health of patients with kidney disease on dialysis and transplant waiting lists in Colombia, join to generate recommendations for prioritization and vaccination against SARS-CoV-2.

Consenso colombiano de expertos sobre recomendaciones informadas en la evidencia para la prevención, diagnóstico y manejo de la infección por SARS-CoV-2/COVID-19 en paciente pediátrico con enfermedad renal crónica o lesión renal aguda asociada a COVID-19 / Colombian consensus of experts on evidence-informed recommendations for the prevention, diagnosis, and management of SARS-CoV-2 / COVID-19 infection in pediatric patients with chronic kidney disease or acute kidney injury associated with COVID-19

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Abstract Introduction: The numbers of SARS-CoV-2 infection in the pediatric population are low so far. There is limited information about the behavior of SARS-CoV-2 in a pediatric patient with chronic kidney disease. Objective: To formulate informed recommendations to the prevention, diagnosis, and management of SARS-CoV-2 infection in pediatric patients with kidney disease or acute kidney injury associated with COVID-19 in Colombia. Methodology: A rapid systematic review was performed in Embase and Pubmed databases and scientific societies, to answer questions prioritized by clinical experts in pediatric nephrology. The quality of the evidence was evaluated with validated tools according to the type of study. The preliminary recommendations were consulted by an expert group. The agreement was defined when approval was obtained from at least 70% of the experts consulted. Results: A response was obtained from ' 9 experts in pediatric nephrology in Colombia, who declared the conflict of interest before the consultation. The range of agreement for the recommendations ranged from 78.9% to '00%. The recommendations did not require a second consultation. Conclusion: The evidence-based recommendations for the management of a patient with kidney disease and COVID-19 in the Colombian context are presented.