More than kin, less than kind: one family and the many faces of diabetes in youth
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Arquivos de Endocrinologia e Metabolismo (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000600637 |
Resumo: | SUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools. |
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More than kin, less than kind: one family and the many faces of diabetes in youthSUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools.Sociedade Brasileira de Endocrinologia e Metabologia2017-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000600637Archives of Endocrinology and Metabolism v.61 n.6 2017reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/2359-3997000000312info:eu-repo/semantics/openAccessFranco,Luciana F.Peixoto-Barbosa,RenataDotto,Renata P.Vieira,José Gilberto H.Dias-da-Silva,Magnus R.Reis,Luiz Carlos F.Giuffrida,Fernando M. A.Reis,Andre F.eng2018-01-31T00:00:00Zoai:scielo:S2359-39972017000600637Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2018-01-31T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
More than kin, less than kind: one family and the many faces of diabetes in youth |
title |
More than kin, less than kind: one family and the many faces of diabetes in youth |
spellingShingle |
More than kin, less than kind: one family and the many faces of diabetes in youth Franco,Luciana F. |
title_short |
More than kin, less than kind: one family and the many faces of diabetes in youth |
title_full |
More than kin, less than kind: one family and the many faces of diabetes in youth |
title_fullStr |
More than kin, less than kind: one family and the many faces of diabetes in youth |
title_full_unstemmed |
More than kin, less than kind: one family and the many faces of diabetes in youth |
title_sort |
More than kin, less than kind: one family and the many faces of diabetes in youth |
author |
Franco,Luciana F. |
author_facet |
Franco,Luciana F. Peixoto-Barbosa,Renata Dotto,Renata P. Vieira,José Gilberto H. Dias-da-Silva,Magnus R. Reis,Luiz Carlos F. Giuffrida,Fernando M. A. Reis,Andre F. |
author_role |
author |
author2 |
Peixoto-Barbosa,Renata Dotto,Renata P. Vieira,José Gilberto H. Dias-da-Silva,Magnus R. Reis,Luiz Carlos F. Giuffrida,Fernando M. A. Reis,Andre F. |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Franco,Luciana F. Peixoto-Barbosa,Renata Dotto,Renata P. Vieira,José Gilberto H. Dias-da-Silva,Magnus R. Reis,Luiz Carlos F. Giuffrida,Fernando M. A. Reis,Andre F. |
description |
SUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000600637 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972017000600637 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2359-3997000000312 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
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 |
Archives of Endocrinology and Metabolism v.61 n.6 2017 reponame:Arquivos de Endocrinologia e Metabolismo (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos de Endocrinologia e Metabolismo (Online) |
collection |
Arquivos de Endocrinologia e Metabolismo (Online) |
repository.name.fl_str_mv |
Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||aem.editorial.office@endocrino.org.br |
_version_ |
1752122514950062080 |