Efectos de la pandemia del SARS-CoV-2 en pacientes con errores innatos del metabolismo. Revisión de la literatura.
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ago 12, 2022
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Daniel F. Cancino Ricketts
https://orcid.org/0000-0003-4605-6360
Juliana Ríos Mora
https://orcid.org/0000-0001-7777-9479
Laura Camila Sáenz Díaz
https://orcid.org/0000-0002-9096-748X
Olga Yaneth Echeverri Peña
https://orcid.org/0000-0002-9467-4430
Johana Guevara Morales
https://orcid.org/0000-0002-9467-4430
https://orcid.org/0000-0003-4605-6360
Juliana Ríos Mora
https://orcid.org/0000-0001-7777-9479
Laura Camila Sáenz Díaz
https://orcid.org/0000-0002-9096-748X
Olga Yaneth Echeverri Peña
https://orcid.org/0000-0002-9467-4430
Johana Guevara Morales
https://orcid.org/0000-0002-9467-4430
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Resumen
El impacto de la pandemia del virus SARS-CoV-2 ha generado un cambio en la atención médica de diversas enfermedades en muchos centros de salud. Los errores innatos del metabolismo (EIM) constituyen enfermedades genéticas que implican un compromiso crónico, con necesidad de seguimientos continuos y aplicación de tratamientos de alta complejidad. Además, se ha sugerido que estas patologías podrían constituir un factor de riesgo para el desarrollo de complicaciones ante la infección por SARS-CoV-2. Con el propósito de identificar cómo la pandemia ha afectado a la población con EIM, se analizaron 17 artículos en donde se evidencian los efectos que ha generado este virus en la salud, el tratamiento, la atención médica y el estilo de vida de pacientes con EIM. Los resultados aportan una visión del conocimiento de la situación de este grupo de pacientes observando que, contrario a lo esperado, hay una perspectiva positiva en términos del comportamiento de las enfermedades en poblaciones con EIM, aunque se evidenciaron algunos inconvenientes en la atención médica. Se resalta la importancia de analizar y divulgar la evidencia disponible para aportar información que contribuya al mejoramiento de la atención y asesoría de pacientes atendiendo a realidades y necesidades específicas.
Keywords
SARS-CoV-2, Errores innatos del Metabolismo, Atención médica,, Telemedicina.
References
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8. Mistry, P., et al., Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular genetics and metabolism, 2020. 130(3): p. 164.
9. Domingo Lamuño, G., et al. Recomendaciones de las sociedades Aecom y Seeim para la escolarización de niños con Errores Innatos del Metabolismo durante la pandemia Covid-19. 2020 [cited 2021 4 de octubre].
10. Clayton, P.T., Is susceptibility to severe COVID-19 disease an inborn error of metabolism? Journal of Inherited Metabolic Disease, 2020.
11. Brunetti-Pierri, N., et al., Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy. Genetics in Medicine, 2020. 22(7): p. 1178-1180.
12. Colombo, C., et al., Impact of COVID-19 on people with cystic fibrosis. The Lancet Respiratory Medicine, 2020. 8(5): p. e35-e36.
13. Carter-Timofte, M.E., et al., Deciphering the role of host genetics in susceptibility to severe COVID-19. Frontiers in immunology, 2020. 11: p. 1606.
14. Peckham, D., et al., COVID-19 meets Cystic Fibrosis: for better or worse? Genes & Immunity, 2020. 21(4): p. 260-262.
15. Bezzerri, V., et al., Does cystic fibrosis constitute an advantage in COVID-19 infection? Italian Journal of Pediatrics, 2020. 46(1): p. 1-3.
16. Caciotti, A., et al., SARS-CoV-2 infection in a patient with propionic acidemia. Orphanet Journal of Rare Diseases, 2020. 15(1): p. 1-5.
17. Enver, E.O., et al., Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study. Journal of Pediatric Endocrinology and Metabolism, 2021. 34(1): p. 103-107.
18. Stanescu, S., et al., Successful Remote Monitoring During COVID-19 Pandemic of Patients with Inborn Errors of the Amino acid Metabolism not including PKU from a Single Reference center using Filter Paper Samples. 2020.
19. Fierro, L., et al., Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics and Metabolism, 2021. 132(1): p. 44-48.
20. Schwartz, I.V.D., et al. SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey. in American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2021. Wiley Online Library.
21. Meyts, I., et al., Coronavirus disease 2019 in patients with inborn errors of immunity: an international study. Journal of Allergy and Clinical Immunology, 2021. 147(2): p. 520-531.
22. Vitturi, N., et al., SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening, in Mol Genet Metab Rep. 2021, © 2020 The Authors. Published by Elsevier Inc. p. 100698.
23. Kahl, G., et al., COVID-19 y mirada desde la fibrosis quística. Rev. am. med. respir, 2020: p. 50-55.
24. López, S.G., et al., Atención de pacientes con errores innatos del metabolismo durante la pandemia de COVID-19 en México: importancia de la telemedicina. Acta Pediátrica de México, 2021. 42(1): p. 11-20.
25. Colquicocha-Murillo, M., et al., Guía para diagnóstico y tratamiento de la Enfermedad de Gaucher. Revista Medica Herediana, 2015. 26(2): p. 103-121.
26. Andrade-Campos, M., et al., Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies? Blood Cells Mol Dis, 2020. 85: p. 102478.
27. Flume, P.A., Pulmonary complications of cystic fibrosis. Respiratory care, 2009. 54(5): p. 618-627.
28. Irago, J.A.D.S., España hace historia aprobando Kaftrio, el tratamiento que cambiará las vidas de muchas personas con Fibrosis Quística. 2021, Sociedad española de Fibrosis Quística.
29. Mijović, B.P., COVID-19–lessons learned. Scripta Medica, 2020. 51(1): p. 1-5.
30. Penna, C., et al., Sex‐related differences in COVID‐19 lethality. British journal of pharmacology, 2020. 177(19): p. 4375-4385.
31. Vitturi, N., et al., SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening. Molecular Genetics and Metabolism Reports, 2021. 26: p. 100698.
32. Tummolo, A., et al., COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center. Children, 2021. 8(9): p. 781.
33. Chung, C.C.Y., et al., A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region. Orphanet Journal of Rare Diseases, 2021. 16(1): p. 1-12.
34. Tobór-Świętek, E., et al., COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers. Journal of clinical medicine, 2021. 10(21): p. 4862.
35. Lampe, C., et al., The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet journal of rare diseases, 2020. 15(1): p. 1-14.
36. Hulley, S., et al., The Impact of SARs-CoV2 infection on paediatric patients with Inherited Metabolic Diseases in the UK: The first 14 months., in XIV International Congress of Inborn Errors of Metabolism. 2021: Sydney, Australia.
37. Lampe, C., et al., The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet journal of rare diseases, 2020. 15(1): p. 1-14.
38. Perú, M.d.s.d., Protocolo para la vacunación contra la covid-19 para personas mayores de 12 aros, que padecen enfermedades raras y huérfanas. 2021: Perú.
39. Vaccinations against COVID-19 and PKU. 2021 [cited 2021; Available from: https://www.espku.org/2021/01/16/vaccinations-against-covid-19-and-pku/.
40. Kumar, N., et al., Is glucose-6-phosphatase dehydrogenase deficiency associated with severe outcomes in hospitalized COVID-19 patients? 2021.
41. Oymak, Y., T.H. Karapinar, and I. Devrim, Why G6PD Deficiency Should Be Screened Before COVID-19 Treatment With Hydroxychloroquine? Journal of Pediatric Hematology/Oncology, 2021. 43(1): p. 35-36.
2. Abelson, A., Are we sacrificing the future of coral reefs on the altar of the “climate change” narrative? ICES Journal of Marine Science, 2020. 77(1): p. 40-45.
3. Dong, E., H. Du, and L. Gardner, An interactive web-based dashboard to track COVID-19 in real time. The Lancet infectious diseases, 2020. 20(5): p. 533-534.
4. Elmonem, M.A., et al., The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. Molecular genetics and metabolism, 2020. 131(3): p. 285-288.
5. Barrera Avellaneda, L.A., et al., Errores innatos del metabolismo: un abordaje integral del diagnóstico al tratamiento. 1 ed. 2014: Editorial Pontificia Universidad Javeriana. 446.
6. Ferreira, C.R., et al., An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis, 2021. 44(1): p. 164-177.
7. Sanchéz, M., M.L. Tamara, and J.D. Serra, Errores innatos del metabolismo: aproximación diagnóstica en Atención Primaria. Bol pediatr, 2007. 47(200): p. 111-115.
8. Mistry, P., et al., Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Molecular genetics and metabolism, 2020. 130(3): p. 164.
9. Domingo Lamuño, G., et al. Recomendaciones de las sociedades Aecom y Seeim para la escolarización de niños con Errores Innatos del Metabolismo durante la pandemia Covid-19. 2020 [cited 2021 4 de octubre].
10. Clayton, P.T., Is susceptibility to severe COVID-19 disease an inborn error of metabolism? Journal of Inherited Metabolic Disease, 2020.
11. Brunetti-Pierri, N., et al., Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy. Genetics in Medicine, 2020. 22(7): p. 1178-1180.
12. Colombo, C., et al., Impact of COVID-19 on people with cystic fibrosis. The Lancet Respiratory Medicine, 2020. 8(5): p. e35-e36.
13. Carter-Timofte, M.E., et al., Deciphering the role of host genetics in susceptibility to severe COVID-19. Frontiers in immunology, 2020. 11: p. 1606.
14. Peckham, D., et al., COVID-19 meets Cystic Fibrosis: for better or worse? Genes & Immunity, 2020. 21(4): p. 260-262.
15. Bezzerri, V., et al., Does cystic fibrosis constitute an advantage in COVID-19 infection? Italian Journal of Pediatrics, 2020. 46(1): p. 1-3.
16. Caciotti, A., et al., SARS-CoV-2 infection in a patient with propionic acidemia. Orphanet Journal of Rare Diseases, 2020. 15(1): p. 1-5.
17. Enver, E.O., et al., Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study. Journal of Pediatric Endocrinology and Metabolism, 2021. 34(1): p. 103-107.
18. Stanescu, S., et al., Successful Remote Monitoring During COVID-19 Pandemic of Patients with Inborn Errors of the Amino acid Metabolism not including PKU from a Single Reference center using Filter Paper Samples. 2020.
19. Fierro, L., et al., Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York. Molecular Genetics and Metabolism, 2021. 132(1): p. 44-48.
20. Schwartz, I.V.D., et al. SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey. in American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2021. Wiley Online Library.
21. Meyts, I., et al., Coronavirus disease 2019 in patients with inborn errors of immunity: an international study. Journal of Allergy and Clinical Immunology, 2021. 147(2): p. 520-531.
22. Vitturi, N., et al., SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening, in Mol Genet Metab Rep. 2021, © 2020 The Authors. Published by Elsevier Inc. p. 100698.
23. Kahl, G., et al., COVID-19 y mirada desde la fibrosis quística. Rev. am. med. respir, 2020: p. 50-55.
24. López, S.G., et al., Atención de pacientes con errores innatos del metabolismo durante la pandemia de COVID-19 en México: importancia de la telemedicina. Acta Pediátrica de México, 2021. 42(1): p. 11-20.
25. Colquicocha-Murillo, M., et al., Guía para diagnóstico y tratamiento de la Enfermedad de Gaucher. Revista Medica Herediana, 2015. 26(2): p. 103-121.
26. Andrade-Campos, M., et al., Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies? Blood Cells Mol Dis, 2020. 85: p. 102478.
27. Flume, P.A., Pulmonary complications of cystic fibrosis. Respiratory care, 2009. 54(5): p. 618-627.
28. Irago, J.A.D.S., España hace historia aprobando Kaftrio, el tratamiento que cambiará las vidas de muchas personas con Fibrosis Quística. 2021, Sociedad española de Fibrosis Quística.
29. Mijović, B.P., COVID-19–lessons learned. Scripta Medica, 2020. 51(1): p. 1-5.
30. Penna, C., et al., Sex‐related differences in COVID‐19 lethality. British journal of pharmacology, 2020. 177(19): p. 4375-4385.
31. Vitturi, N., et al., SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening. Molecular Genetics and Metabolism Reports, 2021. 26: p. 100698.
32. Tummolo, A., et al., COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center. Children, 2021. 8(9): p. 781.
33. Chung, C.C.Y., et al., A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region. Orphanet Journal of Rare Diseases, 2021. 16(1): p. 1-12.
34. Tobór-Świętek, E., et al., COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers. Journal of clinical medicine, 2021. 10(21): p. 4862.
35. Lampe, C., et al., The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet journal of rare diseases, 2020. 15(1): p. 1-14.
36. Hulley, S., et al., The Impact of SARs-CoV2 infection on paediatric patients with Inherited Metabolic Diseases in the UK: The first 14 months., in XIV International Congress of Inborn Errors of Metabolism. 2021: Sydney, Australia.
37. Lampe, C., et al., The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet journal of rare diseases, 2020. 15(1): p. 1-14.
38. Perú, M.d.s.d., Protocolo para la vacunación contra la covid-19 para personas mayores de 12 aros, que padecen enfermedades raras y huérfanas. 2021: Perú.
39. Vaccinations against COVID-19 and PKU. 2021 [cited 2021; Available from: https://www.espku.org/2021/01/16/vaccinations-against-covid-19-and-pku/.
40. Kumar, N., et al., Is glucose-6-phosphatase dehydrogenase deficiency associated with severe outcomes in hospitalized COVID-19 patients? 2021.
41. Oymak, Y., T.H. Karapinar, and I. Devrim, Why G6PD Deficiency Should Be Screened Before COVID-19 Treatment With Hydroxychloroquine? Journal of Pediatric Hematology/Oncology, 2021. 43(1): p. 35-36.
Cómo citar
Cancino Ricketts, D. F., Ríos Mora, J., Sáenz Díaz, L. C., Echeverri Peña, O. Y. ., & Guevara Morales, J. (2022). Efectos de la pandemia del SARS-CoV-2 en pacientes con errores innatos del metabolismo. Revisión de la literatura. Universitas Medica, 63(2). https://doi.org/10.11144/Javeriana.umed63-2.inna
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Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.