More than kin, less than kind: one family and the many faces of diabetes in youth

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dc.citation.issue6
dc.citation.volume61
dc.contributor.authorFranco, Luciana F. [UNIFESP]
dc.contributor.authorPeixoto-Barbosa, Renata [UNIFESP]
dc.contributor.authorDotto, Renata P. [UNIFESP]
dc.contributor.authorVieira, Jose Gilberto H. [UNIFESP]
dc.contributor.authorDias-da-Silva, Magnus R. [UNIFESP]
dc.contributor.authorReis, Luiz Carlos F. [UNIFESP]
dc.contributor.authorGiuffrida, Fernando M. A. [UNIFESP]
dc.contributor.authorReis, Andre F. [UNIFESP]
dc.coverageRio De Janeiro, Rj
dc.date.accessioned2020-07-02T18:52:21Z
dc.date.available2020-07-02T18:52:21Z
dc.date.issued2017
dc.description.abstractIdentification 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.en
dc.description.affiliationUniv Fed Sao Paulo Unifesp, Disciplina Endocrinol, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Estado Bahia UNEB, Dept Ciencias Vida, Salvador, BA, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo Unifesp, Disciplina Endocrinol, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo, Sao Paulo, Brazil [Fapesp 2015-05123-9]
dc.description.sponsorshipID[Fapesp 2015-05123-9]
dc.format.extent637-642
dc.identifierhttp://dx.doi.org/10.1590/2359-3997000000312
dc.identifier.citationArchives Of Endocrinology Metabolism. Rio De Janeiro, Rj, v. 61, n. 6, p. 637-642, 2017.
dc.identifier.doi10.1590/2359-3997000000312
dc.identifier.fileWOS000424375800020.pdf
dc.identifier.issn2359-3997
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54020
dc.identifier.wosWOS:000424375800020
dc.language.isoeng
dc.publisherSbem-Soc Brasil Endocrinologia & Metabologia
dc.relation.ispartofArchives Of Endocrinology Metabolism
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleMore than kin, less than kind: one family and the many faces of diabetes in youthen
dc.typeinfo:eu-repo/semantics/article
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