Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família

Detalhes bibliográficos
Autor(a) principal: Melo, M
Data de Publicação: 2005
Outros Autores: Fagulha, A, Barros, L, Guimarães, J, Carrilho, F, Carvalheiro, M
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/220
Resumo: Friedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.
id RCAP_eaf796aff82cae7217cfa5906415617d
oai_identifier_str oai:rihuc.huc.min-saude.pt:10400.4/220
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Ataxia de Friedreich e Diabetes Mellitus: estudo de uma famíliaFriedreich Ataxia and Diabetes Mellitus: family studyAtaxia de FriedreichDiabetes MellitusFriedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.Centro Editor Livreiro da Ordem dos MédicosRIHUCMelo, MFagulha, ABarros, LGuimarães, JCarrilho, FCarvalheiro, M2008-11-28T12:34:47Z20052005-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/220porActa Med Port. 2005 Nov-Dec;18(6):479-83info: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:RCAAP2023-07-11T14:21:22Zoai:rihuc.huc.min-saude.pt:10400.4/220Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:03:03.759785Repositório 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 Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
Friedreich Ataxia and Diabetes Mellitus: family study
title Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
spellingShingle Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
Melo, M
Ataxia de Friedreich
Diabetes Mellitus
title_short Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
title_full Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
title_fullStr Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
title_full_unstemmed Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
title_sort Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família
author Melo, M
author_facet Melo, M
Fagulha, A
Barros, L
Guimarães, J
Carrilho, F
Carvalheiro, M
author_role author
author2 Fagulha, A
Barros, L
Guimarães, J
Carrilho, F
Carvalheiro, M
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Melo, M
Fagulha, A
Barros, L
Guimarães, J
Carrilho, F
Carvalheiro, M
dc.subject.por.fl_str_mv Ataxia de Friedreich
Diabetes Mellitus
topic Ataxia de Friedreich
Diabetes Mellitus
description Friedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.
publishDate 2005
dc.date.none.fl_str_mv 2005
2005-01-01T00:00:00Z
2008-11-28T12:34:47Z
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 http://hdl.handle.net/10400.4/220
url http://hdl.handle.net/10400.4/220
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Acta Med Port. 2005 Nov-Dec;18(6):479-83
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Centro Editor Livreiro da Ordem dos Médicos
publisher.none.fl_str_mv Centro Editor Livreiro da Ordem dos Médicos
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
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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
repository.mail.fl_str_mv
_version_ 1799131695573630976