Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene

Detalhes bibliográficos
Autor(a) principal: Vendramini, Marcio F. [UNIFESP]
Data de Publicação: 2010
Outros Autores: Gurgel, Lucimary Cavalcante [UNIFESP], Moises, Regina Celia Mello Santiago [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1590/S0004-27302010000800003
http://repositorio.unifesp.br/handle/11600/6009
Resumo: OBJECTIVE: To report the long-term (30-month) effect of the switch from insulin to sulfonylurea in a patient carrying the p.G53D (c.158G>A) mutation in KCNJ11 gene. SUBJECT AND METHOD: A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identification of a heterozygous p.G53D mutation in the KCNJ11 gene, the therapy was switched from insulin to sulfonylurea. RESULTS: Long-term follow-up (30 months) showed that good metabolic control was maintained (HbA1c: 6.6%) and the glibenclamide dose could be reduced. CONCLUSION: Long-term therapy with sulfonylureas in patients with neonatal diabetes due to mutation in the KCNJ11 gene is safe and promotes sustained improvement of glycemic control.
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spelling Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 geneResposta a longo prazo com sulfonilureia em um paciente com diabetes associado à mutação no gene KCNJ11Neonatal diabetesKCNJ11 mutationsulfonylurea therapyDiabetes neonatalmutação KCNJ11terapia com sulfonilureiaOBJECTIVE: To report the long-term (30-month) effect of the switch from insulin to sulfonylurea in a patient carrying the p.G53D (c.158G>A) mutation in KCNJ11 gene. SUBJECT AND METHOD: A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identification of a heterozygous p.G53D mutation in the KCNJ11 gene, the therapy was switched from insulin to sulfonylurea. RESULTS: Long-term follow-up (30 months) showed that good metabolic control was maintained (HbA1c: 6.6%) and the glibenclamide dose could be reduced. CONCLUSION: Long-term therapy with sulfonylureas in patients with neonatal diabetes due to mutation in the KCNJ11 gene is safe and promotes sustained improvement of glycemic control.OBJETIVO: Reportar o efeito a longo prazo (30 meses) da substituição de insulina por sulfonilureia em um paciente com a mutação p.G53D (c.158G>A) no gene KCNJ11. SUJEITO E MÉTODO: Paciente do sexo masculino, atualmente com 29 anos de idade, foi diagnosticado com diabetes melito no terceiro mês de vida e, após identificação da mutação p.G53D (c.158G>A) em heterozigose no gene KCNJ11, a terapia foi substituída de insulina para sulfonilureia. RESULTADOS: Seguimento a longo prazo (30 meses) mostrou que o bom controle metabólico foi mantido (HbA1c: 6,6%) e a dose de glibenclamida pode ser reduzida. CONCLUSÃO: A terapia com sulfonilureia a longo prazo em pacientes com diabetes neonatal decorrente de mutações no gene KCNJ11 é segura e promove uma melhora persistente no controle metabólico.Universidade Federal de São Paulo (UNIFESP) Division of EndocrinologyUNIFESP, Division of EndocrinologySciELOSociedade Brasileira de Endocrinologia e MetabologiaUniversidade Federal de São Paulo (UNIFESP)Vendramini, Marcio F. [UNIFESP]Gurgel, Lucimary Cavalcante [UNIFESP]Moises, Regina Celia Mello Santiago [UNIFESP]2015-06-14T13:41:57Z2015-06-14T13:41:57Z2010-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion682-684application/pdfhttp://dx.doi.org/10.1590/S0004-27302010000800003Arquivos Brasileiros de Endocrinologia & Metabologia. Sociedade Brasileira de Endocrinologia e Metabologia, v. 54, n. 8, p. 682-684, 2010.10.1590/S0004-27302010000800003S0004-27302010000800003.pdf0004-2730S0004-27302010000800003http://repositorio.unifesp.br/handle/11600/6009WOS:000286690400003engArquivos Brasileiros de Endocrinologia & Metabologiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-07-30T14:44:54Zoai:repositorio.unifesp.br/:11600/6009Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-07-30T14:44:54Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
Resposta a longo prazo com sulfonilureia em um paciente com diabetes associado à mutação no gene KCNJ11
title Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
spellingShingle Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
Vendramini, Marcio F. [UNIFESP]
Neonatal diabetes
KCNJ11 mutation
sulfonylurea therapy
Diabetes neonatal
mutação KCNJ11
terapia com sulfonilureia
title_short Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
title_full Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
title_fullStr Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
title_full_unstemmed Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
title_sort Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
author Vendramini, Marcio F. [UNIFESP]
author_facet Vendramini, Marcio F. [UNIFESP]
Gurgel, Lucimary Cavalcante [UNIFESP]
Moises, Regina Celia Mello Santiago [UNIFESP]
author_role author
author2 Gurgel, Lucimary Cavalcante [UNIFESP]
Moises, Regina Celia Mello Santiago [UNIFESP]
author2_role author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Vendramini, Marcio F. [UNIFESP]
Gurgel, Lucimary Cavalcante [UNIFESP]
Moises, Regina Celia Mello Santiago [UNIFESP]
dc.subject.por.fl_str_mv Neonatal diabetes
KCNJ11 mutation
sulfonylurea therapy
Diabetes neonatal
mutação KCNJ11
terapia com sulfonilureia
topic Neonatal diabetes
KCNJ11 mutation
sulfonylurea therapy
Diabetes neonatal
mutação KCNJ11
terapia com sulfonilureia
description OBJECTIVE: To report the long-term (30-month) effect of the switch from insulin to sulfonylurea in a patient carrying the p.G53D (c.158G>A) mutation in KCNJ11 gene. SUBJECT AND METHOD: A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identification of a heterozygous p.G53D mutation in the KCNJ11 gene, the therapy was switched from insulin to sulfonylurea. RESULTS: Long-term follow-up (30 months) showed that good metabolic control was maintained (HbA1c: 6.6%) and the glibenclamide dose could be reduced. CONCLUSION: Long-term therapy with sulfonylureas in patients with neonatal diabetes due to mutation in the KCNJ11 gene is safe and promotes sustained improvement of glycemic control.
publishDate 2010
dc.date.none.fl_str_mv 2010-11-01
2015-06-14T13:41:57Z
2015-06-14T13:41:57Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/S0004-27302010000800003
Arquivos Brasileiros de Endocrinologia & Metabologia. Sociedade Brasileira de Endocrinologia e Metabologia, v. 54, n. 8, p. 682-684, 2010.
10.1590/S0004-27302010000800003
S0004-27302010000800003.pdf
0004-2730
S0004-27302010000800003
http://repositorio.unifesp.br/handle/11600/6009
WOS:000286690400003
url http://dx.doi.org/10.1590/S0004-27302010000800003
http://repositorio.unifesp.br/handle/11600/6009
identifier_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia. Sociedade Brasileira de Endocrinologia e Metabologia, v. 54, n. 8, p. 682-684, 2010.
10.1590/S0004-27302010000800003
S0004-27302010000800003.pdf
0004-2730
S0004-27302010000800003
WOS:000286690400003
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 682-684
application/pdf
dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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