Wolfram syndrome: A case report
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Research, Society and Development |
Texto Completo: | https://rsdjournal.org/index.php/rsd/article/view/16116 |
Resumo: | Wolfram Syndrome is an autosomal recessive disease linked to the short arm of chromosome 4. The main clinical features are diabetes mellitus and optic nerve atrophy, as well as central diabetes insipidus, ataxia, sensorineural deafness and changes in the urinary tract. Other symptoms may be present, but less common. The harms in the life of its carriers are profound, due to the degenerative and non-remissive nature of the syndrome. The present study aims to report the case of a female patient, 23 years old (2020), born in Alfenas - Minas Gerais - Brazil, with the Wolfram Syndrome, as well disclose more knowledge about the syndrome. In addition, we address the need for interaction between different health professionals to minimize the suffering experienced by people with the disease and their families. |
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Wolfram syndrome: A case reportSíndrome de Wolfram: Reporte de un casoSíndrome de Wolfram: Um relato de casoSíndrome de WolframPsiquiatría; Nervio ópticoDiabetes MellitusEpilepsia.Wolfram syndromePsychiatryOptic nerveDiabetes MellitusEpilepsy.Síndrome de WolframPsiquiatriaNervo ópticoDiabetes MellitusEpilepsia.Wolfram Syndrome is an autosomal recessive disease linked to the short arm of chromosome 4. The main clinical features are diabetes mellitus and optic nerve atrophy, as well as central diabetes insipidus, ataxia, sensorineural deafness and changes in the urinary tract. Other symptoms may be present, but less common. The harms in the life of its carriers are profound, due to the degenerative and non-remissive nature of the syndrome. The present study aims to report the case of a female patient, 23 years old (2020), born in Alfenas - Minas Gerais - Brazil, with the Wolfram Syndrome, as well disclose more knowledge about the syndrome. In addition, we address the need for interaction between different health professionals to minimize the suffering experienced by people with the disease and their families.El síndrome de Wolfram es una enfermedad autosómica recesiva ligada al brazo corto del cromosoma 4. Las principales características clínicas son diabetes mellitus y atrofia del nervio óptico, así como diabetes insípida central, ataxia, sordera neurosensorial y alteraciones del tracto urinario. Pueden estar presentes otros síntomas, pero menos comunes. Los daños en la vida de sus portadores son profundos, debido a la naturaleza degenerativa y no remisiva del síndrome. El presente estudio tiene como objetivo reportar el caso de una paciente de 23 años (2020), nacida en Alfenas - Minas Gerais - Brasil, con el Síndrome de Wolfram, así como divulgar más conocimientos sobre el síndrome. Además, abordamos la necesidad de interacción entre diferentes profesionales de la salud para minimizar el sufrimiento que experimentan las personas con la enfermedad y sus familias.A Síndrome de Wolfram é uma doença autossômica recessiva ligada ao braço curto do cromossomo 4. As principais manifestações clínicas são diabetes mellitus e atrofia do nervo óptico, além de diabetes insípido central, ataxia, surdez neurossensorial e alterações do trato urinário. Outros sintomas podem estar presentes, mas menos comuns. Os prejuízos na vida de seus portadores são profundos, devido ao caráter degenerativo e não remissivo da síndrome. O presente estudo tem como objetivo relatar o caso de uma paciente do sexo feminino, 23 anos (2020), natural de Alfenas - Minas Gerais - Brasil, com a Síndrome de Wolfram, bem como divulgar mais conhecimentos sobre a síndrome. Além disso, abordamos a necessidade de interação entre os diversos profissionais de saúde para minimizar o sofrimento vivenciado pelas pessoas com a doença e seus familiares.Research, Society and Development2021-06-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/1611610.33448/rsd-v10i6.16116Research, Society and Development; Vol. 10 No. 6; e52410616116Research, Society and Development; Vol. 10 Núm. 6; e52410616116Research, Society and Development; v. 10 n. 6; e524106161162525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/16116/14372Copyright (c) 2021 Vitor Faria Soares Ferreira; Camila Reis Campos; Anderson Michel Furtado; Leonardo Ferreira Caixeta; Marcelo Caixeta; Tales Alexandre Aversi-Ferreirahttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessFerreira, Vitor Faria SoaresCampos, Camila ReisFurtado, Anderson Michel Caixeta, Leonardo FerreiraCaixeta, MarceloAversi-Ferreira, Tales Alexandre2021-06-10T22:51:46Zoai:ojs.pkp.sfu.ca:article/16116Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:36:45.864110Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false |
dc.title.none.fl_str_mv |
Wolfram syndrome: A case report Síndrome de Wolfram: Reporte de un caso Síndrome de Wolfram: Um relato de caso |
title |
Wolfram syndrome: A case report |
spellingShingle |
Wolfram syndrome: A case report Ferreira, Vitor Faria Soares Síndrome de Wolfram Psiquiatría ; Nervio óptico Diabetes Mellitus Epilepsia. Wolfram syndrome Psychiatry Optic nerve Diabetes Mellitus Epilepsy. Síndrome de Wolfram Psiquiatria Nervo óptico Diabetes Mellitus Epilepsia. |
title_short |
Wolfram syndrome: A case report |
title_full |
Wolfram syndrome: A case report |
title_fullStr |
Wolfram syndrome: A case report |
title_full_unstemmed |
Wolfram syndrome: A case report |
title_sort |
Wolfram syndrome: A case report |
author |
Ferreira, Vitor Faria Soares |
author_facet |
Ferreira, Vitor Faria Soares Campos, Camila Reis Furtado, Anderson Michel Caixeta, Leonardo Ferreira Caixeta, Marcelo Aversi-Ferreira, Tales Alexandre |
author_role |
author |
author2 |
Campos, Camila Reis Furtado, Anderson Michel Caixeta, Leonardo Ferreira Caixeta, Marcelo Aversi-Ferreira, Tales Alexandre |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Ferreira, Vitor Faria Soares Campos, Camila Reis Furtado, Anderson Michel Caixeta, Leonardo Ferreira Caixeta, Marcelo Aversi-Ferreira, Tales Alexandre |
dc.subject.por.fl_str_mv |
Síndrome de Wolfram Psiquiatría ; Nervio óptico Diabetes Mellitus Epilepsia. Wolfram syndrome Psychiatry Optic nerve Diabetes Mellitus Epilepsy. Síndrome de Wolfram Psiquiatria Nervo óptico Diabetes Mellitus Epilepsia. |
topic |
Síndrome de Wolfram Psiquiatría ; Nervio óptico Diabetes Mellitus Epilepsia. Wolfram syndrome Psychiatry Optic nerve Diabetes Mellitus Epilepsy. Síndrome de Wolfram Psiquiatria Nervo óptico Diabetes Mellitus Epilepsia. |
description |
Wolfram Syndrome is an autosomal recessive disease linked to the short arm of chromosome 4. The main clinical features are diabetes mellitus and optic nerve atrophy, as well as central diabetes insipidus, ataxia, sensorineural deafness and changes in the urinary tract. Other symptoms may be present, but less common. The harms in the life of its carriers are profound, due to the degenerative and non-remissive nature of the syndrome. The present study aims to report the case of a female patient, 23 years old (2020), born in Alfenas - Minas Gerais - Brazil, with the Wolfram Syndrome, as well disclose more knowledge about the syndrome. In addition, we address the need for interaction between different health professionals to minimize the suffering experienced by people with the disease and their families. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-06-08 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/16116 10.33448/rsd-v10i6.16116 |
url |
https://rsdjournal.org/index.php/rsd/article/view/16116 |
identifier_str_mv |
10.33448/rsd-v10i6.16116 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/16116/14372 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Research, Society and Development |
publisher.none.fl_str_mv |
Research, Society and Development |
dc.source.none.fl_str_mv |
Research, Society and Development; Vol. 10 No. 6; e52410616116 Research, Society and Development; Vol. 10 Núm. 6; e52410616116 Research, Society and Development; v. 10 n. 6; e52410616116 2525-3409 reponame:Research, Society and Development instname:Universidade Federal de Itajubá (UNIFEI) instacron:UNIFEI |
instname_str |
Universidade Federal de Itajubá (UNIFEI) |
instacron_str |
UNIFEI |
institution |
UNIFEI |
reponame_str |
Research, Society and Development |
collection |
Research, Society and Development |
repository.name.fl_str_mv |
Research, Society and Development - Universidade Federal de Itajubá (UNIFEI) |
repository.mail.fl_str_mv |
rsd.articles@gmail.com |
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1797052679078281216 |