Cystic fibrosis: history and main means for diagnosis
DOI:
https://doi.org/10.33448/rsd-v10i3.13075Keywords:
Cystic Fibrosis; Diagnosis; Rare Diseases; Historic.Abstract
Cystic fibrosis (CF) is a rare disease that manifests itself in childhood or adolescence, it is highly lethal and multisystemic, generated through the mutation in the gene that encodes the Cystic Fibrosis Transmembrane Conductance Regulatory Protein, which causes increased viscosity mucus in the human body and forms of diagnosis are required to define the treatment to be followed. The objective of this study was to verify the history of cystic fibrosis and to identify some of the main methods of diagnosis of this pathology. It is an integrative literature review, carried out in the Scientific Electronic Electronic Library Online (SciELO), Medical Literature Analysis and Retrieval databases System Online (MedLine / PUBMED) and Latin American and Caribbean Literature in Health Sciences (LILACS), using the descriptors in DeCS: Cystic Fibrosis, diagnosis, history, using the Boolean AND operator. The selection followed criteria for inclusion and exclusion of articles available completely and free of charge, between the years 2015 and 2020, in Portuguese, English and Spanish. Inconclusive, repetitive studies and integrative reviews were excluded during collection for the research in question. About 459 studies related to cystic fibrosis were found, of which 26 articles met the previously determined criteria and were included in the review. According to the diagnostic methods found, the gold standard is the Sweat Test. Cystic fibrosis is an urgent and chronic disease that causes victims worldwide and that needs early diagnosis in order to increase patient survival.
References
Al-Abadi, B., et al (2019). Cystic Fibrosis Gene Mutation Frequency Among a Group of Suspected Children in King Hussein Medical Center. Med Arch. 73(2), 118-20.
Adde, F. V. (2015). Nutrição em fibrose cística: tão importante quanto o manejo da doença pulmonar. Revista Paulista de Pediatria. 33(1), 1-2.
Alves, S. P. & Bueno, D. (2018). O perfil dos cuidadores de pacientes pediátricos com fibrose cística. Ciência & Saúde Coletiva. 23(5), 1451-7.
Bepari, K. K., Malakar, A. K., Paul P., Halder, B. & Chakraborty, S. (2015). Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations. Bioinformation. 11(7), 348-52
Battestin, B., et al (2016). Relato de caso: diagnóstico e manejo de paciente com fibrose cística em apresentação clássica. Revista de Medicina e Saúde de Brasília. 5(1), 66-78.
Carvalho, D. C., et al (2017). Evolução do Programa de Triagem Neonatal em hospital de referência no Ceará: 11 anos de observação. ABCS Health Sciences. 42(3), 143-46.
Cirilli, N., et al (2018). Real life pratice of sweat testing in Europe. Journal of Cystic Fibrosis. 17(3), 325-32.
Dias, A., Saatkamp, J. & Manfredini, V. (2015). Prevalência das doenças detectadas pelo Teste do Pezinho no município de Uruguaiana, RS. Anais do Salão Internacional de Ensino, Pesquisa e Extensão. 7(2).
Domingos, M. T., Magdalena, N. I. R., Cat, M. N. L., Watanabe, A. M. & Filho, N. A. R. (2015). Condutividade do suor e teste quantitativo coloumétrico na triagem neonatal de fibrose cística. Jornal de Pediatria. 91(6), 590-95.
Emiralioglu, N., Ozçelik, U., Yalçin, E., Dogrun, D. & Kiper, N. (2016). Diagnosis of cystic fibrosis with chlorid meter (Sherwood M926S chloride analyzer®) and sweat teste analysis system (CF collection system®) compared to the Gibson Cooke method. The Turkish Journal of Peadiatrics. 58(1), 27-33.
Feitosa, M. S., et al (2018). Fibrose cística em dois irmão adultos em estado da Amazônia: estudo de caso. Revista Eletrônica Acervo Saúde.11(2).
Ferreira, D. P., Chaves, C. R. M. M. & Costa, A. C. C. (2019). Adesão de adolescentes com fibrose cística a terapia de reposição enzimática: fatores associados. Ciência e Saúde Coletiva. 24(12).
Girardet, A. V., et al (2016). The improvement of the best pratice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward na international consensus. European Journal of Human Genetics. 24, 469-78.
Gonçalves, A. C., et al (2019). Dosagem da concentração dos íons cloreto e sódio na saliva e no suor para reconhecimento de pacientes com fibrose cística. Jornal de Pediatria. 95(4), 443-50.
Luz, G. S., Silva, M. R. S. & DeMontigny, F. (2015). Doenças raras: itinerário diagnóstico e terapêutico das famílias de pessoas afetadas. Acta Paulista de Enfermagem. 28(5), 395-400.
Lubovich, S, et al (2019). Factores de riesgo asociados a exarcebaciones respiratórias em pacientes pediátricos com fibrosis quística. Archivos Argentinos de Pediatría. 117(5), 466-72.
Machado, L. N., Gomes, M. G. & Alves, A. B. (2020). Relato de caso: fibrose cística e a importância do diagnóstico precoce. Revista Unilago. 1(1).
Mastella, G. (2010) Teste do suor: a análise de condutividade pode tomar o lugar do método clássico de Gibson e Cooke? Jornal de Pediatria. 586(2), 89-91.
Masson, A. A., Sampaio, L. C. & Cavadas, A. C. S. M. (2018). Reflexões sobre o direito universal à anamnese clínica. Revista Dissertar. 1(28 e 29), 11-18.
Mendes, K. D., Silveira, R. C. & Galvão, C. M. (2008). Integrative literature review: a research method to incorporate evidence in health care and nursing. Texto Contexto Enferm, Florianópolis. 17(4), 758-64.
Pessoa, I. L., Guerra, F. Q. S., Menezes, C. P. & Gonçalves, G. F. (2015). Fibrose Cística: Aspectos genéticos, clínicos e diagnósticos. Brazilian Journal Of Surgery and Clinical Research. 11(4), 30-36.
Reisinho, M. C. & Gomes, B. (2016). O adolescente com fibrose cística: crescer na diferença. Revista Portuguesa de Enfermagem de Saúde Mental. (spe3), 85-94.
Salvatore, M., et al (2017). Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison. Ann Ist Super Sanita. 53(4), 305-13.
Santana, N. N. S., Silva, C. D. A., Mota, M. A. G., Freitas, B. A., Soares, A. M. (2020). Análise descritiva dos pares de mutações da proteína CFTR e estado funcional de adolescentes com fibrose cística: uma série de casos. Revista Inspirar. 20(1), 1-13.
Servidoni, M. F., et al (2017). Teste do suor e fibrose cística: panorama da realização do teste em centros públicos e privados de São Paulo. Jornal Brasileiro de Pneumologia. 43(2), 121-8.
Souza, R. P., et al (2018). O uso da ultrassonografia para avaliar a espessura muscular e a gordura subcutânea em crianças e adolescentes com fibrose cística. Revista Paulista de Pediatria. 36(4), 457-65.
Terlizzi, V., et al (2018). Clinical expression of cystic fibrosis in a large cohort of Italian siblings. BMC Pulm Med 18, 196.
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Copyright (c) 2021 Maria Natália Alves Ribeiro; José Leonardo Gomes Coelho; Natália dos Santos Almeida; Renata Vilar Bernardo; Camila Florinda Nascimento Martins; Eugênia Leopoldina Ferreira; Yolanda Gomes Duarte; Maria Eduarda Correia dos Santos; Carla Jamily Cabral Pereira; Iannaele Oliveira do Vale Batista; Lauanda Nogueira Cândido; Willma José de Santana; Dayse Christina Rodrigues Pereira Luz
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