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

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

Author Franco, Luciana F. Autor UNIFESP Google Scholar
Peixoto-Barbosa, Renata Autor UNIFESP Google Scholar
Dotto, Renata P. Autor UNIFESP Google Scholar
Vieira, Jose Gilberto H. Autor UNIFESP Google Scholar
Dias-da-Silva, Magnus R. Autor UNIFESP Google Scholar
Reis, Luiz Carlos F. Autor UNIFESP Google Scholar
Giuffrida, Fernando M. A. Autor UNIFESP Google Scholar
Reis, Andre F. Autor UNIFESP Google Scholar
Abstract 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.
xmlui.dri2xhtml.METS-1.0.item-coverage Rio De Janeiro, Rj
Language English
Sponsor Fundacao de Amparo a Pesquisa do Estado de Sao Paulo, Sao Paulo, Brazil [Fapesp 2015-05123-9]
Grant number [Fapesp 2015-05123-9]
Date 2017
Published in Archives Of Endocrinology Metabolism. Rio De Janeiro, Rj, v. 61, n. 6, p. 637-642, 2017.
ISSN 2359-3997 (Sherpa/Romeo, impact factor)
Publisher Sbem-Soc Brasil Endocrinologia & Metabologia
Extent 637-642
Origin http://dx.doi.org/10.1590/2359-3997000000312
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000424375800020
URI https://repositorio.unifesp.br/handle/11600/54020

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