Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil
Mucopolysaccharidoses (MPSs) are a group of rare diseases characterized by the deficiency of lysosomal enzymes leading to the accumulation of glycosaminoglycans in organs and tissues. They are chronic, degenerative and debilitating, with significant generalized systemic compromises. They can be clas...
| Autor principal: | RIZZIOLLI, Lilian Carol Gondim |
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| Outros Autores: | OLIVEIRA, Mayara Raussa da Silva |
| Grau: | Trabalho de Conclusão de Curso - Graduação |
| Publicado em: |
2018
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http://bdm.ufpa.br/jspui/handle/prefix/516 |
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oai:https:--bdm.ufpa.br:8443:prefix-5162019-08-23T16:35:24Z Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil RIZZIOLLI, Lilian Carol Gondim OLIVEIRA, Mayara Raussa da Silva PALHETA NETO, Francisco Xavier http://lattes.cnpq.br/5875006792210017 Mucopolissacaridoses Doenças raras Otorrinolaringologia CNPQ::CIENCIAS DA SAUDE::MEDICINA Mucopolysaccharidoses (MPSs) are a group of rare diseases characterized by the deficiency of lysosomal enzymes leading to the accumulation of glycosaminoglycans in organs and tissues. They are chronic, degenerative and debilitating, with significant generalized systemic compromises. They can be classified into seven types according to the deficient enzyme, each category having its own clinical, genetic and biochemical evidence. Its main otorhinolaryngological manifestations include respiratory anomalies, sleep and speech disorders, repetitive upper respiratory tract infections (IVAS), macroglossia, hypoacusis, tonsil hypertrophy, oral breathing, among others. The current monograph is a clinical and epidemiological, observational and cross-sectional study that aims to describe the otorhinolaryngological manifestations present in patients with MPSs attended at a referral hospital in Otorhinolaryngology in the North of Brazil between June and December 2016. In the data collection, a research protocol elaborated by the authors was used, which was applied in 10 patients followed at the referred hospital. A predominance of males was observed, with a mean age of 14.6 years, being the natural majority of other Brazilian states and having incomplete primary education as a schooling degree. Seven (70%) patients had at least one family member also with the syndrome, however, only one individual studied was son of consanguineous parents. In the otorhinolaryngological evaluation, the most frequent findings were: syndromic facies for signs, hearing loss for symptoms, presence of nasal polyp and otalgia were, respectively, the sign and symptom of lower significance. Analyzing the MPS types individually, the otorhinolaryngological findings observed in all of them were syndromic facies, tonsil hypertrophy, hearing loss, recurrent upper airway infections and sleep disorders; the MPS-II was the type with the largest number of patients in the study and with more otorhinolaryngological manifestations. It is concluded that otorhinolaryngological clinic is widely observed in patients with MPSs, often being the first sign of the disease, so it’s clear the importance of the otorhinolaryngologist, especially the one who takes care of the pediatric age group, since these patients are referred frequently for these conditions, it is up to the professional to relate such affections to other signs and symptoms of MPSs and to perform an early diagnosis of the syndrome and positively interfere with their prognosis. As mucopolissacaridoses (MPSs) são um conjunto de doenças raras caracterizadas pela deficiência de enzimas lisossômicas levando ao acúmulo de glicosaminoglicanos (GAGs) em órgãos e tecidos. São crônicas, degenerativas e debilitantes, com acometimentos sistêmicos generalizados significativos. Podem ser classificadas em sete tipos de acordo com a enzima deficiente, sendo cada categoria dotada de suas próprias evidências clínicas, genéticas e bioquímicas. Suas principais manifestações otorrinolaringológicas incluem anomalias respiratórias, distúrbios do sono e da fala, infecções das vias aéreas superiores (IVAS) de repetição, macroglossia, hipoacusia, hipertrofia de tonsilas, respiração oral, entre outras. O presente trabalho trata-se de um estudo clínico e epidemiológico, observacional e transversal que objetiva relatar as manifestações otorrinolaringológicas presentes nos pacientes com MPSs atendidos em hospital de referência em Otorrinolaringologia no Norte do Brasil entre Junho e Dezembro de 2016. Na coleta dos dados, utilizou-se protocolo de pesquisa elaborado pelos autores, o qual foi aplicado em 10 pacientes acompanhados no hospital referido. Observou-se predomínio do gênero masculino, idade média de 14,6 anos, sendo a maioria natural de outros estados brasileiros e possuindo ensino fundamental incompleto como grau de escolaridade. Sete (70%) pacientes possuíam pelo menos um familiar também portador da síndrome, todavia apenas um (10%) indivíduo estudado era filho de pais consanguíneos. Na avaliação otorrinolaringológica, os achados mais frequentes foram: fácies sindrômica para sinais, hipoacusia para sintomas, presença de pólipo nasal e otalgia foram, respectivamente, o sinal e sintoma de menor significância. Analisando os tipos de MPSs individualmente, os achados otorrinolaringológicos observados em todos foram: fácies sindrômica, hipertrofia de amígdalas, hipoacusia, infecções das vias aéreas superiores de repetição e distúrbios do sono; a MPS-II foi o tipo com maior número de portadores no estudo e com mais manifestações otorrinolaringológicas. Conclui-se que a clínica otorrinolaringológica é amplamente observada nos portadores de MPSs, muitas vezes sendo o primeiro sinal da doença, daí a importância do otorrinolaringologista, principalmente aquele que cuida da faixa etária pediátrica, pois esses pacientes são encaminhados com frequência por essas afecções, cabendo ao profissional relacionar tais acometimentos com outros sinais e sintomas das MPSs, podendo realizar um diagnóstico precoce da síndrome e interferir positivamente em seu prognóstico. 2018-05-28T17:17:12Z 2018-05-28T17:17:12Z 2017 Trabalho de Conclusão de Curso - Graduação RIZZIOLLI, Lilian Carol Gondim; OLIVEIRA, Mayara Raussa da Silva. Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil. Orientador: Francisco Xavier Palheta Neto. 2017. 76 f. Trabalho de Conclusão de Curso (Bacharelado em Medicina) – Faculdade de Medicina, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2017. Disponível em: <http://bdm.ufpa.br/jspui/handle/prefix/516>. Acesso em: http://bdm.ufpa.br/jspui/handle/prefix/516 Acesso Aberto 1 CD-ROM |
| institution |
Biblioteca Digital de Monografias - UFPA |
| collection |
MonografiaUFPA |
| topic |
Mucopolissacaridoses Doenças raras Otorrinolaringologia CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| spellingShingle |
Mucopolissacaridoses Doenças raras Otorrinolaringologia CNPQ::CIENCIAS DA SAUDE::MEDICINA RIZZIOLLI, Lilian Carol Gondim Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil |
| topic_facet |
Mucopolissacaridoses Doenças raras Otorrinolaringologia CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| description |
Mucopolysaccharidoses (MPSs) are a group of rare diseases characterized by the deficiency of lysosomal enzymes leading to the accumulation of glycosaminoglycans in organs and tissues. They are chronic, degenerative and debilitating, with significant generalized systemic compromises. They can be classified into seven types according to the deficient enzyme, each category having its own clinical, genetic and biochemical evidence. Its main otorhinolaryngological manifestations include respiratory anomalies, sleep and speech disorders, repetitive upper respiratory tract infections (IVAS), macroglossia, hypoacusis, tonsil hypertrophy, oral breathing, among others. The current monograph is a clinical and epidemiological, observational and cross-sectional study that aims to describe the otorhinolaryngological manifestations present in patients with MPSs attended at a referral hospital in Otorhinolaryngology in the North of Brazil between June and December 2016. In the data collection, a research protocol elaborated by the authors was used, which was applied in 10 patients followed at the referred hospital. A predominance of males was observed, with a mean age of 14.6 years, being the natural majority of other Brazilian states and having incomplete primary education as a schooling degree. Seven (70%) patients had at least one family member also with the syndrome, however, only one individual studied was son of consanguineous parents. In the otorhinolaryngological evaluation, the most frequent findings were: syndromic facies for signs, hearing loss for symptoms, presence of nasal polyp and otalgia were, respectively, the sign and symptom of lower significance. Analyzing the MPS types individually, the otorhinolaryngological findings observed in all of them were syndromic facies, tonsil hypertrophy, hearing loss, recurrent upper airway infections and sleep disorders; the MPS-II was the type with the largest number of patients in the study and with more otorhinolaryngological manifestations. It is concluded that otorhinolaryngological clinic is widely observed in patients with MPSs, often being the first sign of the disease, so it’s clear the importance of the otorhinolaryngologist, especially the one who takes care of the pediatric age group, since these patients are referred frequently for these conditions, it is up to the professional to relate such affections to other signs and symptoms of MPSs and to perform an early diagnosis of the syndrome and positively interfere with their prognosis. |
| author_additional |
PALHETA NETO, Francisco Xavier |
| author_additionalStr |
PALHETA NETO, Francisco Xavier |
| format |
Trabalho de Conclusão de Curso - Graduação |
| author |
RIZZIOLLI, Lilian Carol Gondim |
| author2 |
OLIVEIRA, Mayara Raussa da Silva |
| author2Str |
OLIVEIRA, Mayara Raussa da Silva |
| title |
Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil |
| title_short |
Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil |
| title_full |
Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil |
| title_fullStr |
Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil |
| title_full_unstemmed |
Perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na Unidade de Otorrinolaringologia em um Hospital referência no norte do Brasil |
| title_sort |
perfil clínico-epidemiológico de pacientes portadores de mucopolissacaridoses atendidos na unidade de otorrinolaringologia em um hospital referência no norte do brasil |
| publishDate |
2018 |
| url |
http://bdm.ufpa.br/jspui/handle/prefix/516 |
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1787154528095698944 |
| score |
11.653393 |