Endocrine disorders in children with neurofibromatosis type 1: What to look for?

Detalhes bibliográficos
Autor(a) principal: Rangel, Maria Adriana
Data de Publicação: 2022
Outros Autores: Vila Real, Marta, Santos, Fátima, Leite, Ana Luísa, Campos, Rosa Arménia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25753/BirthGrowthMJ.v31.i4.25986
Resumo: Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders, with a reported incidence of 1:3000. The condition is multisystemic, and diagnostic criteria have been recently revised as an international consensus recommendation. The clinical features evolve slowly and progressively and may often be absent in early childhood. Disorders of growth and endocrine conditions, although described for several decades in these children, are not included in the diagnostic criteria. However, they are relatively frequent and may be the presenting feature of optic pathway glioma. Due to its wide spectrum of health implications, children with NF1 are often followed at Pediatric consultation. The aim of this article is to review the most frequent endocrine disorders in NF1 patients, what to look for, and when to refer patients to pediatric Endocrinology consultation.
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spelling Endocrine disorders in children with neurofibromatosis type 1: What to look for?Alterações endócrinas em crianças com neurofibromatose tipo 1: O que procurar?Review ArticlesNeurofibromatosis type 1 (NF1) is one of the most common genetic disorders, with a reported incidence of 1:3000. The condition is multisystemic, and diagnostic criteria have been recently revised as an international consensus recommendation. The clinical features evolve slowly and progressively and may often be absent in early childhood. Disorders of growth and endocrine conditions, although described for several decades in these children, are not included in the diagnostic criteria. However, they are relatively frequent and may be the presenting feature of optic pathway glioma. Due to its wide spectrum of health implications, children with NF1 are often followed at Pediatric consultation. The aim of this article is to review the most frequent endocrine disorders in NF1 patients, what to look for, and when to refer patients to pediatric Endocrinology consultation.A neurofibromatose tipo 1 (NF1) é uma das doenças genéticas mais comuns, com uma incidência reportada de 1:3000. A condição é multissistémica e os critérios diagnósticos foram recentemente revistos ​​como uma recomendação de consenso internacional. As características clínicas da doença evoluem lenta e progressivamente e frequentemente podem estar ausentes na primeira infância. Embora descritos há várias décadas nestas crianças, condições endócrinas e distúrbios do crescimento não estão incluídos nos critérios diagnósticos da doença. No entanto, são relativamente frequentes e podem ser a forma de apresentação de glioma da via ótica. Devido ao amplo espetro de implicações na saúde da NF1, o seguimento destas crianças é muitas vezes feito em contexto de consulta de Pediatria. O objetivo deste artigo é rever os distúrbios endócrinos mais frequentes em doentes com NF1, o que vigiar e quando referenciar os doentes à consulta de Endocrinologia pediátrica.Centro Hospitalar Universitário do Porto2022-12-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v31.i4.25986eng2183-9417Rangel, Maria AdrianaVila Real, MartaSantos, FátimaLeite, Ana LuísaCampos, Rosa Arméniainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-12-29T17:00:48Zoai:ojs.revistas.rcaap.pt:article/25986Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:29:01.947534Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Endocrine disorders in children with neurofibromatosis type 1: What to look for?
Alterações endócrinas em crianças com neurofibromatose tipo 1: O que procurar?
title Endocrine disorders in children with neurofibromatosis type 1: What to look for?
spellingShingle Endocrine disorders in children with neurofibromatosis type 1: What to look for?
Rangel, Maria Adriana
Review Articles
title_short Endocrine disorders in children with neurofibromatosis type 1: What to look for?
title_full Endocrine disorders in children with neurofibromatosis type 1: What to look for?
title_fullStr Endocrine disorders in children with neurofibromatosis type 1: What to look for?
title_full_unstemmed Endocrine disorders in children with neurofibromatosis type 1: What to look for?
title_sort Endocrine disorders in children with neurofibromatosis type 1: What to look for?
author Rangel, Maria Adriana
author_facet Rangel, Maria Adriana
Vila Real, Marta
Santos, Fátima
Leite, Ana Luísa
Campos, Rosa Arménia
author_role author
author2 Vila Real, Marta
Santos, Fátima
Leite, Ana Luísa
Campos, Rosa Arménia
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Rangel, Maria Adriana
Vila Real, Marta
Santos, Fátima
Leite, Ana Luísa
Campos, Rosa Arménia
dc.subject.por.fl_str_mv Review Articles
topic Review Articles
description Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders, with a reported incidence of 1:3000. The condition is multisystemic, and diagnostic criteria have been recently revised as an international consensus recommendation. The clinical features evolve slowly and progressively and may often be absent in early childhood. Disorders of growth and endocrine conditions, although described for several decades in these children, are not included in the diagnostic criteria. However, they are relatively frequent and may be the presenting feature of optic pathway glioma. Due to its wide spectrum of health implications, children with NF1 are often followed at Pediatric consultation. The aim of this article is to review the most frequent endocrine disorders in NF1 patients, what to look for, and when to refer patients to pediatric Endocrinology consultation.
publishDate 2022
dc.date.none.fl_str_mv 2022-12-27
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25753/BirthGrowthMJ.v31.i4.25986
url https://doi.org/10.25753/BirthGrowthMJ.v31.i4.25986
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2183-9417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Centro Hospitalar Universitário do Porto
publisher.none.fl_str_mv Centro Hospitalar Universitário do Porto
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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