Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Repositório Institucional da UFG |
Texto Completo: | http://repositorio.bc.ufg.br/tede/handle/tede/8400 |
Resumo: | Phenylketonuria is a genetic disorder of an autosomal recessive nature, caused by the deficiency or absence of the enzyme phenylalanine hydroxylase. This enzyme is responsible for the conversion of phenylalanine to tyrosine and its substrates. From the absence of these products, the individual starts to present cognitive deficits that can reach irreversible sequels. The taste and limitation of foods allowed in patient feeding is a major obstacle in adherence to treatment. There are many types of formulas present in the market and, in addition, protein substitutes are offered in capsules, bars and sachets with taste and smell of fruit, for better acceptance. Adequacy and regular follow-up of the diet are essential points for prevention of adverse effects. In this way, the team must provide guidance to the family to know the importance of nutritional therapy, which must be carried out throughout life. This study aimed to analyze the profile of patients with phenylketonuria followed by the Reference Service in Neonatal Screening in the State of Goiás. A cross - sectional study was conducted with a quantitative approach and a documental basis. The medical records of the patients with phenylketonuria were used, accompanied by the referral service in neonatal screening in the State of Goiás. Sociodemographic, obstetric, diagnostic and consultative data were collected from the collection. The sample consisted of 78 patients in outpatient follow-up at the referral service. In the educational variable of the mother, there was a statistically significant association with incomplete primary education (p = 0.019) and occurrence of complication. There was also a significant association in the variable of schooling of the father, related to incomplete primary education (p = 0.002). There were associations between complications, late diagnosis and dietary neglect. It is possible to notice that with adequate follow-up, the blood levels of phenylalanine can be controlled, guaranteeing a good prognosis to the patient. Adherence to dietary treatment provides an excellent quality of life for the patient with phenylketonuria and can significantly reduce the risks of complications and sequelae. Family support and the particular attention of the multiprofessional team are essential facilitators for successful follow-up. Thus, we can corroborate that the disease does not become an obstacle for the social and economic inclusion of individuals. To conclude, we emphasize the importance of the multiprofessional team in the follow-up of these patients, and the importance of the family structure in this process, s |
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Mendonça, Ana Karina Marques Salgehttp://lattes.cnpq.br/7766918925030041Guimarães, Janaína Valadareshttp://lattes.cnpq.br/0986934969522024Mendonça, Ana Karina Marques SalgeAredes, Natalia Del' AngeloLemos, Lucimeire Ferminohttp://lattes.cnpq.br/2779410129599984Figueira, Vandressa Barbosa2018-04-27T13:16:53Z2018-03-26FIGUEIRA, V. B. Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás. 2018. 73 f. Dissertação (Mestrado em Enfermagem) - Universidade Federal de Goiás, Goiânia, 2018.http://repositorio.bc.ufg.br/tede/handle/tede/8400Phenylketonuria is a genetic disorder of an autosomal recessive nature, caused by the deficiency or absence of the enzyme phenylalanine hydroxylase. This enzyme is responsible for the conversion of phenylalanine to tyrosine and its substrates. From the absence of these products, the individual starts to present cognitive deficits that can reach irreversible sequels. The taste and limitation of foods allowed in patient feeding is a major obstacle in adherence to treatment. There are many types of formulas present in the market and, in addition, protein substitutes are offered in capsules, bars and sachets with taste and smell of fruit, for better acceptance. Adequacy and regular follow-up of the diet are essential points for prevention of adverse effects. In this way, the team must provide guidance to the family to know the importance of nutritional therapy, which must be carried out throughout life. This study aimed to analyze the profile of patients with phenylketonuria followed by the Reference Service in Neonatal Screening in the State of Goiás. A cross - sectional study was conducted with a quantitative approach and a documental basis. The medical records of the patients with phenylketonuria were used, accompanied by the referral service in neonatal screening in the State of Goiás. Sociodemographic, obstetric, diagnostic and consultative data were collected from the collection. The sample consisted of 78 patients in outpatient follow-up at the referral service. In the educational variable of the mother, there was a statistically significant association with incomplete primary education (p = 0.019) and occurrence of complication. There was also a significant association in the variable of schooling of the father, related to incomplete primary education (p = 0.002). There were associations between complications, late diagnosis and dietary neglect. It is possible to notice that with adequate follow-up, the blood levels of phenylalanine can be controlled, guaranteeing a good prognosis to the patient. Adherence to dietary treatment provides an excellent quality of life for the patient with phenylketonuria and can significantly reduce the risks of complications and sequelae. Family support and the particular attention of the multiprofessional team are essential facilitators for successful follow-up. Thus, we can corroborate that the disease does not become an obstacle for the social and economic inclusion of individuals. To conclude, we emphasize the importance of the multiprofessional team in the follow-up of these patients, and the importance of the family structure in this process, sA fenilcetonúria é uma desordem genética de caráter autossômico recessivo, causada pela deficiência ou ausência da enzima fenilalanina hidroxilase. Esta enzima é responsável pela conversão da fenilalanina em tirosina e seus substratos. A partir da ausência desses produtos, o indivíduo passa a apresentar déficits cognitivos que podem chegar a sequelas irreversíveis. O sabor e limitação dos alimentos permitidos na alimentação dos pacientes é um obstáculo importante na adesão ao tratamento. Existem muitos tipos de fórmulas presentes no mercado e, além disso, são oferecidos substitutos proteicos em cápsulas, barras e sachês com gosto e cheiro de frutas, para melhor aceitação. A adequação e seguimento regular da dieta são pontos essenciais para prevenção de efeitos adversos. Deste modo, a equipe deve realizar orientações à família para ciência da importância da terapia nutricional, que deve ser realizada por toda a vida. Esse estudo objetivou analisar o perfil dos pacientes com fenilcetonúria acompanhados pelo Serviço de Referência em Triagem Neonatal do Estado de Goiás. Foi realizado um estudo transversal de abordagem quantitativa e base documental. Foram utilizados os prontuários dos pacientes portadores de fenilcetonúria acompanhados pelo serviço de referência em triagem neonatal do estado de Goiás. A partir da coleta, foram agrupados dados sociodemográficos, obstétricos, de diagnóstico e de consultas. A amostra foi composta por 78 pacientes em seguimento ambulatorial no serviço de referência. Na variável escolaridade da mãe, verificou-se uma associação estatisticamente significativa com relação a ensino fundamental incompleto (p=0,019) e ocorrência de complicação. Também se verificou associação significativa na variável escolaridade do pai, relacionado à ensino fundamental incompleto (p=0,002). Houve associações entre complicações, diagnóstico tardio e negligência da dieta. É possível perceber que com o adequado acompanhamento, os níveis sanguíneos de fenilalanina podem ser controlados, garantindo bom prognóstico ao paciente. A adesão ao tratamento dietético possibilita excelente qualidade de vida ao portador de fenilcetonúria e pode diminuir os riscos de complicações e sequelas de maneira importante. O apoio familiar e a atenção particular da equipe multiprofissional são facilitadores essenciais para o sucesso do acompanhamento. Dessa forma, podemos corroborar para que a doença não se torne obstáculo para inclusão social e econômica dos indivíduos. Para concluir, destacamos a importância da equipe multiprofissional no acompanhamento desses pacientes, e a importância da estrutura familiar nesse processo, para que seja formado um sistema de apoio forte e capacitado para cada indivíduo portador da doença.Submitted by Liliane Ferreira (ljuvencia30@gmail.com) on 2018-04-27T12:44:02Z No. of bitstreams: 2 Dissertação - Vandressa Barbosa Figueira - 2018.pdf: 2271525 bytes, checksum: 54416c5f0458d8c9cbc87a68d6295fa5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2018-04-27T13:16:53Z (GMT) No. of bitstreams: 2 Dissertação - Vandressa Barbosa Figueira - 2018.pdf: 2271525 bytes, checksum: 54416c5f0458d8c9cbc87a68d6295fa5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Made available in DSpace on 2018-04-27T13:16:53Z (GMT). No. of bitstreams: 2 Dissertação - Vandressa Barbosa Figueira - 2018.pdf: 2271525 bytes, checksum: 54416c5f0458d8c9cbc87a68d6295fa5 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2018-03-26application/pdfporUniversidade Federal de GoiásPrograma de Pós-graduação em Enfermagem (FEN)UFGBrasilFaculdade de Enfermagem - FEN (RG)http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessFenilcetonúriaTriagem neonatalEnfermagemPhenylketonuriaNeonatal screeningNursingCIENCIAS DA SAUDE::ENFERMAGEMPerfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de GoiásClinical and epidemiological profile of patients with phenylketonuria in the state of Goiásinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesis45061628303650419816006006002756753233336908714-7702826533010964327reponame:Repositório Institucional da UFGinstname:Universidade Federal de Goiás (UFG)instacron:UFGLICENSElicense.txtlicense.txttext/plain; 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dc.title.eng.fl_str_mv |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
dc.title.alternative.eng.fl_str_mv |
Clinical and epidemiological profile of patients with phenylketonuria in the state of Goiás |
title |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
spellingShingle |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás Figueira, Vandressa Barbosa Fenilcetonúria Triagem neonatal Enfermagem Phenylketonuria Neonatal screening Nursing CIENCIAS DA SAUDE::ENFERMAGEM |
title_short |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
title_full |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
title_fullStr |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
title_full_unstemmed |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
title_sort |
Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás |
author |
Figueira, Vandressa Barbosa |
author_facet |
Figueira, Vandressa Barbosa |
author_role |
author |
dc.contributor.advisor1.fl_str_mv |
Mendonça, Ana Karina Marques Salge |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/7766918925030041 |
dc.contributor.advisor-co1.fl_str_mv |
Guimarães, Janaína Valadares |
dc.contributor.advisor-co1Lattes.fl_str_mv |
http://lattes.cnpq.br/0986934969522024 |
dc.contributor.referee1.fl_str_mv |
Mendonça, Ana Karina Marques Salge |
dc.contributor.referee2.fl_str_mv |
Aredes, Natalia Del' Angelo |
dc.contributor.referee3.fl_str_mv |
Lemos, Lucimeire Fermino |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/2779410129599984 |
dc.contributor.author.fl_str_mv |
Figueira, Vandressa Barbosa |
contributor_str_mv |
Mendonça, Ana Karina Marques Salge Guimarães, Janaína Valadares Mendonça, Ana Karina Marques Salge Aredes, Natalia Del' Angelo Lemos, Lucimeire Fermino |
dc.subject.por.fl_str_mv |
Fenilcetonúria Triagem neonatal Enfermagem |
topic |
Fenilcetonúria Triagem neonatal Enfermagem Phenylketonuria Neonatal screening Nursing CIENCIAS DA SAUDE::ENFERMAGEM |
dc.subject.eng.fl_str_mv |
Phenylketonuria Neonatal screening Nursing |
dc.subject.cnpq.fl_str_mv |
CIENCIAS DA SAUDE::ENFERMAGEM |
description |
Phenylketonuria is a genetic disorder of an autosomal recessive nature, caused by the deficiency or absence of the enzyme phenylalanine hydroxylase. This enzyme is responsible for the conversion of phenylalanine to tyrosine and its substrates. From the absence of these products, the individual starts to present cognitive deficits that can reach irreversible sequels. The taste and limitation of foods allowed in patient feeding is a major obstacle in adherence to treatment. There are many types of formulas present in the market and, in addition, protein substitutes are offered in capsules, bars and sachets with taste and smell of fruit, for better acceptance. Adequacy and regular follow-up of the diet are essential points for prevention of adverse effects. In this way, the team must provide guidance to the family to know the importance of nutritional therapy, which must be carried out throughout life. This study aimed to analyze the profile of patients with phenylketonuria followed by the Reference Service in Neonatal Screening in the State of Goiás. A cross - sectional study was conducted with a quantitative approach and a documental basis. The medical records of the patients with phenylketonuria were used, accompanied by the referral service in neonatal screening in the State of Goiás. Sociodemographic, obstetric, diagnostic and consultative data were collected from the collection. The sample consisted of 78 patients in outpatient follow-up at the referral service. In the educational variable of the mother, there was a statistically significant association with incomplete primary education (p = 0.019) and occurrence of complication. There was also a significant association in the variable of schooling of the father, related to incomplete primary education (p = 0.002). There were associations between complications, late diagnosis and dietary neglect. It is possible to notice that with adequate follow-up, the blood levels of phenylalanine can be controlled, guaranteeing a good prognosis to the patient. Adherence to dietary treatment provides an excellent quality of life for the patient with phenylketonuria and can significantly reduce the risks of complications and sequelae. Family support and the particular attention of the multiprofessional team are essential facilitators for successful follow-up. Thus, we can corroborate that the disease does not become an obstacle for the social and economic inclusion of individuals. To conclude, we emphasize the importance of the multiprofessional team in the follow-up of these patients, and the importance of the family structure in this process, s |
publishDate |
2018 |
dc.date.accessioned.fl_str_mv |
2018-04-27T13:16:53Z |
dc.date.issued.fl_str_mv |
2018-03-26 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
format |
masterThesis |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
FIGUEIRA, V. B. Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás. 2018. 73 f. Dissertação (Mestrado em Enfermagem) - Universidade Federal de Goiás, Goiânia, 2018. |
dc.identifier.uri.fl_str_mv |
http://repositorio.bc.ufg.br/tede/handle/tede/8400 |
identifier_str_mv |
FIGUEIRA, V. B. Perfil clínico e epidemiológico de pacientes portadores de fenilcetonúria no estado de Goiás. 2018. 73 f. Dissertação (Mestrado em Enfermagem) - Universidade Federal de Goiás, Goiânia, 2018. |
url |
http://repositorio.bc.ufg.br/tede/handle/tede/8400 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.program.fl_str_mv |
4506162830365041981 |
dc.relation.confidence.fl_str_mv |
600 600 600 |
dc.relation.department.fl_str_mv |
2756753233336908714 |
dc.relation.cnpq.fl_str_mv |
-7702826533010964327 |
dc.rights.driver.fl_str_mv |
http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Federal de Goiás |
dc.publisher.program.fl_str_mv |
Programa de Pós-graduação em Enfermagem (FEN) |
dc.publisher.initials.fl_str_mv |
UFG |
dc.publisher.country.fl_str_mv |
Brasil |
dc.publisher.department.fl_str_mv |
Faculdade de Enfermagem - FEN (RG) |
publisher.none.fl_str_mv |
Universidade Federal de Goiás |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFG instname:Universidade Federal de Goiás (UFG) instacron:UFG |
instname_str |
Universidade Federal de Goiás (UFG) |
instacron_str |
UFG |
institution |
UFG |
reponame_str |
Repositório Institucional da UFG |
collection |
Repositório Institucional da UFG |
bitstream.url.fl_str_mv |
http://repositorio.bc.ufg.br/tede/bitstreams/d1027ad5-e3f6-4079-a97b-6d5b831e79ff/download http://repositorio.bc.ufg.br/tede/bitstreams/ca8d963b-66d9-434b-b1f7-eabed2863d47/download http://repositorio.bc.ufg.br/tede/bitstreams/6cd8486a-33fb-444a-ad36-a4badd19e31f/download http://repositorio.bc.ufg.br/tede/bitstreams/0be6f610-1bf2-4230-9985-e37e80dea992/download http://repositorio.bc.ufg.br/tede/bitstreams/2d41cf38-c5ba-487d-9b67-d7af45392da3/download |
bitstream.checksum.fl_str_mv |
bd3efa91386c1718a7f26a329fdcb468 4afdbb8c545fd630ea7db775da747b2f d41d8cd98f00b204e9800998ecf8427e d41d8cd98f00b204e9800998ecf8427e 54416c5f0458d8c9cbc87a68d6295fa5 |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 MD5 MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UFG - Universidade Federal de Goiás (UFG) |
repository.mail.fl_str_mv |
tasesdissertacoes.bc@ufg.br |
_version_ |
1798044303103098880 |