Wolfram syndrome: A case report

Detalhes bibliográficos
Autor(a) principal: Ferreira, Vitor Faria Soares
Data de Publicação: 2021
Outros Autores: Campos, Camila Reis, Furtado, Anderson Michel, Caixeta, Leonardo Ferreira, Caixeta, Marcelo, Aversi-Ferreira, Tales Alexandre
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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spelling 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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