Fibrose cística: aspectos clínicos, microbiológicos e funcionais de crianças e adolescentes em um serviço de referência no nordeste do Brasil
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Aug 15, 2024
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Resumo
Objetivo: Descrever os aspectos clínicos, microbiológicos e funcionais de crianças e adolescentes atendidos em serviço de referência do Nordeste do Brasil. Métodos: Estudo transversal com coleta retrospectiva com variáveis quantitativas. Resultados: O estudo foi conduzido com 22 pacientes com média de idade de 9 anos, sendo 81,8% de não brancos. A mediana de idade ao diagnóstico foi de 6 meses, com predomínio de sintomas gastrointestinais e respiratórios crônicos. A triagem neonatal foi feita em 59% das crianças e a variante F508del foi encontrada em 81,8% dos pacientes genotipados. P. aeruginosa e S. aureaus foram recuperadas em 87,5% e 57,1% dos pacientes, respectivamente, e a função pulmonar foi normal ou com obstrução leve em 80% deles. As internações foram frequentes em menores de 2 anos (58,7%), por exacerbação pulmonar aguda em 71,5% dos casos e em portadores da variante F508del. Conclusão: O predomínio de genótipos clássicos, o diagnóstico tardio, o baixo número de consultas, o elevado número de internações nos primeiros anos e a colonização precoce por P. aeruginosa sinalizam para a necessidade de melhoras na rede de assistência desde a triagem neonatal, passando pelo acesso regular aos medicamentos até a implementação de políticas públicas que garantam os direitos dos pacientes.
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Como Citar
HaidarD. M. C., & QueirozR. S. L. T. (2024). Fibrose cística: aspectos clínicos, microbiológicos e funcionais de crianças e adolescentes em um serviço de referência no nordeste do Brasil. Revista Eletrônica Acervo Saúde, 24(8), e16668. https://doi.org/10.25248/reas.e16668.2024
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Referências
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4. ALVAREZ AE, et al. Fibrose cística em um centro de referência no Brasil: características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença. J Pediatr, 2004; 80: 371-379.
5. ANDRADE EF, et al. Avaliação evolutiva da espirometria na fibrose cística. J Pneumol, 2001; 27(3): 130-136.
6. ARMSTRONG DS, et al. Bronchoalveolar lavage or oropharyngeal cultures to identify lower respiratory pathogens in infants with cystic fibrosis. Pediatric pulmonology, 1996; 21: 267-275.
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8. BRENNAN MSI. Cystic fibrosis: A review of associated phenotypes, use of molecular diagnostic approaches, genetic characteristics, progress, and dilemmas. J Mol Diagnostics, 2016; 18(1): 3-14.
9. BURNS JL, JM ROLAIN J-M. Culture-based diagnostic microbiology in cystic fibrosis: can we simplify the complexity? Journal of Cystic Fibrosis, 2014; 13(1): 1-9.
10. CHARLES RE, et al. Detection of Rapidly Growing Mycobacteria in Routine Cultures of Samples from Patients with Cystic Fibrosis. Journal of Clinical Microbiology, 2011; 49: 1421-1425.
11. COREY M, FAREWELL V. Determinants of mortality from Cystic Fibrosis in Canada, 1970- 1989. Am J Epidemiol., 1996; 10(143): 1007-1017.
12. CUTTING GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet, 2015; 16: 45-56.
13. CYSTIC FIBROSIS CANADA. The Canadian Cystic Fibrosis Registry. 2017 Annual Data Report. www.cysticfibrosis.ca/blog/2017-registry-annual-data-report/. Date last accessed: July 2020. Date last updated: December 2018.
14. CYSTIC FIBROSIS CENTRE. Cystic Fibrosis Mutation Data Base (CFTR1). Cystic Fibrosis Centre, The Hospital for Sick Children, Toronto, 1989. Disponível em: https ://www.re3data.org/repository/r3d100012093. Acessado em: 10 de março de 2024.
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16. CYSTIC FIBROSIS TRUST. Laboratory Standards for Processing Microbiological Samples from People with Cystic Fibrosis. 2. ed. England; Wales; Scotland: UK Cystic Fibrosis Trust, Dec. 2022. Disponível em: https ://www.cysticfibrosis.org.uk/sites/default/files/2023-01/CF%20Lab%20Standards%20FINAL.pdf. Acessado em: 1 de dezembro de 2023.
17. FARRELL PM, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. The Journal of Pediatrics, 2017; 181S: 4-52.
18. GOVAN J, NELSON JW. Microbiology of lung infection in cystic fibrosis. Br Med Bull, 1992; 48(4): 912-930.
19. GRUPO BRASILEIRO DE ESTUDOS DE FIBROSE CÍSTICA. Registro Brasileiro de Fibrose Cística – REBRAFC: Relatório Anual de 2020. São Paulo: GBEFC, 2020. Disponível em: http ://portalgbefc.org.br/site/pagina.php?idpai=128&id=15. Acessado em: 28 de novembro de 2023.
20. HAIDAR, DMC. Triagem Neonatal para Fibrose Cística no Estado do Maranhão: evolução em 5 anos. In: CONGRESSO BRASILEIRO MULTIDISCIPLINAR DE FIBROSE CÍSTICA, 7., 2019, Campinas. Anais [...]. São Paulo: Universidade de São Paulo, 2019; 45: p. R1-R97.
21. HIGGINS CF. ABC Transporters: From microorganisms to man. vol. 8. Oxford Engl: Annual Review of Cell Biology, 1992; 8: 67-113.
22. HØIBY N, et al. Pseudomonas aeruginosa infection in cystic fibrosis. Diagnostic and prognostic significance of Pseudomonas aeruginosa precipitins determined by means of crossed immunoelectrophoresis. Scand J Respir Dis., 1977; 58(2): 65-79.
23. JANE LB, JEAN-MARC R. Culture-based diagnostic microbiology in cystic fibrosis: Can we simplify the complexity? Journal of Cystic Fibrosis.Volume 13, Issue 1, January 2014, Pages 1-9 Disponível em: https ://doi.org/10.1016/j.jcf.2013.09.004.
24. KEREM BS et al. Identification of the cystic fibrosis gene: genetic analysis. Science,1989; 245(4922): 1073-1080.
25. KOCH C. Early infection and progression of cystic fibrosis lung disease. Pediatr Pulmonol, 2002; 34(3): 232-236.
26. KRAEMER R, et al. Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis. Respiratory Research, 2006, 7(138).
27. LEE TWR, et al. Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients. J Cyst Fibros, 2003; 2(1): 29-34.
28. LOPES-PACHECO M. CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine. Front. Farmacol., 2019; 10: e01662.
29. MAYER-HAMBLETT N, et al. Advancing Outcome Measures for the New Era of Drug Development in Cystic Fibrosis. Proc Am Thorac Soc., 2007; 4: 370-377.
30. MESQUITA LER, et al. Análise molecular do gene RTFC em indivíduos nascidos no Maranhão e Pará com sinais clínicos sugestivos da síndrome da fibrose cística. Genetics and Molecular Biology., 2000; 23(3).
31. MILLER J. Standardisation. spirometry. Series ‘‘ATS/ERS Task Force: standardisation of lung function testing’’. Eur Respir J, 2005; 26: 319-338.
32. MOGAYZEL JPJ, et al. Cystic Fibrosis Pulmonary Guidelines Chronic Medications for Maintenance of Lung Health. Am J Respir Crit Care Med., 2013; 187(7): 680-689.
33. NIXON GM, et al. Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. J Pediatr., 2001; 138(5): 699-704.
34. PARKINS MD, et al. Epidemiology, Biology, and Impact of Clonal Pseudomonas aeruginosa Infections in Cystic Fibrosis. Clinical Microbiology Reviews, 2018; 31(4): p. 1-38.
35. PROCIANOY EDFA, et al. Patient care in cystic fibrosis centers: a realworld analysis in Brazil. J Bras Pneumol., 2023; 49(1): e20220306.
36. RASKIN S, et al. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p. F508del, mutation at the CFTR gene in newborns and patients. Journal of Cystic Fibrosis, 2008; 7: 15-22.
37. REID DW, et al. Changes in cystic fibrosis mortality in Australia, 1979–2005. Med J Aust, 2011; 195: 392-395.
38. ROSENFELD M. Gender gap in cystic fibrosis mortality. Am J Epidemiol, 1997; 145: 794-803.
39. ROSENSTEIN BJ. What is a Cystic Fibrosis diagnostic? Clinics in Chest Medicine, 1998: 19(3): 423-441.
40. ROSENSTEIN BJ, CUTTING GR. The diagnosis of cystic fibrosis: A consensus statement Consenso da Cystic Fibrosis Foundation, 1998. Disponível em: https ://pure.johnshopkins.edu/en/publications/the-diagnosis-ofcystic-fibrosis-a-consensus-statement-4. Acesso em: 10 março de 2024.
41. SATHE M, HOUWEN, R. Meconium ileus in Cystic Fibrosis. Journal of Cystic Fibrosis, 2017; 16(2): S32-S39.
42. SILVA FILHO LVRF. Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country. Journal of Cystic Fibrosis, 2021; 20(3): 473-484.
43. THORNTON CS, PARKINS MD. Microbial Epidemiology of the Cystic Fibrosis Airways: Past, Present, and Future. Semin Respir Crit Care Med, 2023; 44(2):269-286.
44. VOLPATO FCZ. Avaliação do microbioma de amostras de escarro de pacientes com doença pulmonar crônica na fibrose cística. Tese (Doutorado em Medicina) – Universidade Federal do Rio Grande do Sul, Porto Alegre, 2022; 195 p.
45. WHITTIER S. Proficiency testing of clinical microbiology laboratories using modified decontamination procedures for detection of nontuberculous mycobacteria in sputum samples from cystic fibrosis patients. The Nontuberculous Mycobacteria in Cystic Fibrosis Study Group. Journal of Clinical Microbiology, 1997; 35(10).
46. YANKASKAS JR, MALLORY JR GB. Lung Transplantation in Cystic Fibrosis: Consensus Conference Statement. Chest., 1998; 113(1): 217-226.
47. ZIYAEE F, et al. Clinical manifestation, laboratory findings, and outcome of children with cystic fibrosis over a 10-year period in So.
2. ABDULKHAIR, WM, ALGHUTHAYMI, MA. Microbial Cystic Fibrosis. In: Cystic Fibrosis-Facts, Management and Advances. London: Intech Open, 2019.
3. AGRAWAL A, et al. Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013. Intractable & Rare Diseases Research, 2017; 6(3): 191-198.
4. ALVAREZ AE, et al. Fibrose cística em um centro de referência no Brasil: características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença. J Pediatr, 2004; 80: 371-379.
5. ANDRADE EF, et al. Avaliação evolutiva da espirometria na fibrose cística. J Pneumol, 2001; 27(3): 130-136.
6. ARMSTRONG DS, et al. Bronchoalveolar lavage or oropharyngeal cultures to identify lower respiratory pathogens in infants with cystic fibrosis. Pediatric pulmonology, 1996; 21: 267-275.
7. BRASILEIRO ARR. Infecção do trato respiratório de pacientes com Fibrose Cística assistidos em ambulatório multidisciplinar de um hospital universitário. TCC (Graduação em Medicina) – Universidade Federal da Bahia, Salvador, 2017; 44 p. Disponível em: https ://repositorio.ufba.br/handle/ri/36839. Acessado em: 1 de dezembro de 2023.
8. BRENNAN MSI. Cystic fibrosis: A review of associated phenotypes, use of molecular diagnostic approaches, genetic characteristics, progress, and dilemmas. J Mol Diagnostics, 2016; 18(1): 3-14.
9. BURNS JL, JM ROLAIN J-M. Culture-based diagnostic microbiology in cystic fibrosis: can we simplify the complexity? Journal of Cystic Fibrosis, 2014; 13(1): 1-9.
10. CHARLES RE, et al. Detection of Rapidly Growing Mycobacteria in Routine Cultures of Samples from Patients with Cystic Fibrosis. Journal of Clinical Microbiology, 2011; 49: 1421-1425.
11. COREY M, FAREWELL V. Determinants of mortality from Cystic Fibrosis in Canada, 1970- 1989. Am J Epidemiol., 1996; 10(143): 1007-1017.
12. CUTTING GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet, 2015; 16: 45-56.
13. CYSTIC FIBROSIS CANADA. The Canadian Cystic Fibrosis Registry. 2017 Annual Data Report. www.cysticfibrosis.ca/blog/2017-registry-annual-data-report/. Date last accessed: July 2020. Date last updated: December 2018.
14. CYSTIC FIBROSIS CENTRE. Cystic Fibrosis Mutation Data Base (CFTR1). Cystic Fibrosis Centre, The Hospital for Sick Children, Toronto, 1989. Disponível em: https ://www.re3data.org/repository/r3d100012093. Acessado em: 10 de março de 2024.
15. CLINICAL AND FUNCTIONAL TRANSLATION OF CFTR. Cystic Fibrosis Mutation Database. The Clinical and Functional Translation of CFTR (CFTR2), US CF Foundation, Johns Hopkins University, The Hospital for Sick Children, Baltimore, US, 2011. Disponível em: https ://cftr2.org. Acessado em: 10 de março de 2024.
16. CYSTIC FIBROSIS TRUST. Laboratory Standards for Processing Microbiological Samples from People with Cystic Fibrosis. 2. ed. England; Wales; Scotland: UK Cystic Fibrosis Trust, Dec. 2022. Disponível em: https ://www.cysticfibrosis.org.uk/sites/default/files/2023-01/CF%20Lab%20Standards%20FINAL.pdf. Acessado em: 1 de dezembro de 2023.
17. FARRELL PM, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. The Journal of Pediatrics, 2017; 181S: 4-52.
18. GOVAN J, NELSON JW. Microbiology of lung infection in cystic fibrosis. Br Med Bull, 1992; 48(4): 912-930.
19. GRUPO BRASILEIRO DE ESTUDOS DE FIBROSE CÍSTICA. Registro Brasileiro de Fibrose Cística – REBRAFC: Relatório Anual de 2020. São Paulo: GBEFC, 2020. Disponível em: http ://portalgbefc.org.br/site/pagina.php?idpai=128&id=15. Acessado em: 28 de novembro de 2023.
20. HAIDAR, DMC. Triagem Neonatal para Fibrose Cística no Estado do Maranhão: evolução em 5 anos. In: CONGRESSO BRASILEIRO MULTIDISCIPLINAR DE FIBROSE CÍSTICA, 7., 2019, Campinas. Anais [...]. São Paulo: Universidade de São Paulo, 2019; 45: p. R1-R97.
21. HIGGINS CF. ABC Transporters: From microorganisms to man. vol. 8. Oxford Engl: Annual Review of Cell Biology, 1992; 8: 67-113.
22. HØIBY N, et al. Pseudomonas aeruginosa infection in cystic fibrosis. Diagnostic and prognostic significance of Pseudomonas aeruginosa precipitins determined by means of crossed immunoelectrophoresis. Scand J Respir Dis., 1977; 58(2): 65-79.
23. JANE LB, JEAN-MARC R. Culture-based diagnostic microbiology in cystic fibrosis: Can we simplify the complexity? Journal of Cystic Fibrosis.Volume 13, Issue 1, January 2014, Pages 1-9 Disponível em: https ://doi.org/10.1016/j.jcf.2013.09.004.
24. KEREM BS et al. Identification of the cystic fibrosis gene: genetic analysis. Science,1989; 245(4922): 1073-1080.
25. KOCH C. Early infection and progression of cystic fibrosis lung disease. Pediatr Pulmonol, 2002; 34(3): 232-236.
26. KRAEMER R, et al. Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis. Respiratory Research, 2006, 7(138).
27. LEE TWR, et al. Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients. J Cyst Fibros, 2003; 2(1): 29-34.
28. LOPES-PACHECO M. CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine. Front. Farmacol., 2019; 10: e01662.
29. MAYER-HAMBLETT N, et al. Advancing Outcome Measures for the New Era of Drug Development in Cystic Fibrosis. Proc Am Thorac Soc., 2007; 4: 370-377.
30. MESQUITA LER, et al. Análise molecular do gene RTFC em indivíduos nascidos no Maranhão e Pará com sinais clínicos sugestivos da síndrome da fibrose cística. Genetics and Molecular Biology., 2000; 23(3).
31. MILLER J. Standardisation. spirometry. Series ‘‘ATS/ERS Task Force: standardisation of lung function testing’’. Eur Respir J, 2005; 26: 319-338.
32. MOGAYZEL JPJ, et al. Cystic Fibrosis Pulmonary Guidelines Chronic Medications for Maintenance of Lung Health. Am J Respir Crit Care Med., 2013; 187(7): 680-689.
33. NIXON GM, et al. Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. J Pediatr., 2001; 138(5): 699-704.
34. PARKINS MD, et al. Epidemiology, Biology, and Impact of Clonal Pseudomonas aeruginosa Infections in Cystic Fibrosis. Clinical Microbiology Reviews, 2018; 31(4): p. 1-38.
35. PROCIANOY EDFA, et al. Patient care in cystic fibrosis centers: a realworld analysis in Brazil. J Bras Pneumol., 2023; 49(1): e20220306.
36. RASKIN S, et al. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p. F508del, mutation at the CFTR gene in newborns and patients. Journal of Cystic Fibrosis, 2008; 7: 15-22.
37. REID DW, et al. Changes in cystic fibrosis mortality in Australia, 1979–2005. Med J Aust, 2011; 195: 392-395.
38. ROSENFELD M. Gender gap in cystic fibrosis mortality. Am J Epidemiol, 1997; 145: 794-803.
39. ROSENSTEIN BJ. What is a Cystic Fibrosis diagnostic? Clinics in Chest Medicine, 1998: 19(3): 423-441.
40. ROSENSTEIN BJ, CUTTING GR. The diagnosis of cystic fibrosis: A consensus statement Consenso da Cystic Fibrosis Foundation, 1998. Disponível em: https ://pure.johnshopkins.edu/en/publications/the-diagnosis-ofcystic-fibrosis-a-consensus-statement-4. Acesso em: 10 março de 2024.
41. SATHE M, HOUWEN, R. Meconium ileus in Cystic Fibrosis. Journal of Cystic Fibrosis, 2017; 16(2): S32-S39.
42. SILVA FILHO LVRF. Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country. Journal of Cystic Fibrosis, 2021; 20(3): 473-484.
43. THORNTON CS, PARKINS MD. Microbial Epidemiology of the Cystic Fibrosis Airways: Past, Present, and Future. Semin Respir Crit Care Med, 2023; 44(2):269-286.
44. VOLPATO FCZ. Avaliação do microbioma de amostras de escarro de pacientes com doença pulmonar crônica na fibrose cística. Tese (Doutorado em Medicina) – Universidade Federal do Rio Grande do Sul, Porto Alegre, 2022; 195 p.
45. WHITTIER S. Proficiency testing of clinical microbiology laboratories using modified decontamination procedures for detection of nontuberculous mycobacteria in sputum samples from cystic fibrosis patients. The Nontuberculous Mycobacteria in Cystic Fibrosis Study Group. Journal of Clinical Microbiology, 1997; 35(10).
46. YANKASKAS JR, MALLORY JR GB. Lung Transplantation in Cystic Fibrosis: Consensus Conference Statement. Chest., 1998; 113(1): 217-226.
47. ZIYAEE F, et al. Clinical manifestation, laboratory findings, and outcome of children with cystic fibrosis over a 10-year period in So.