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

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  • Additional Information
    • Source:
      Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: Print Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE
    • Publication Information:
      Original Publication: São Paulo, SP : Segmento Farma Editores
    • Subject Terms:
      Genetic Predisposition to Disease*; Diabetes Mellitus/*genetics ; Hepatocyte Nuclear Factor 1-alpha/*genetics ; Hepatocyte Nuclear Factor 4/*genetics ; Protein Serine-Threonine Kinases/*genetics; Adult ; Aged ; Child, Preschool ; Diabetes Mellitus/classification ; Female ; Genetic Testing ; Genotype ; Germinal Center Kinases ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree
    • 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.
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    • Accession Number:
      0 (Germinal Center Kinases)
      0 (HNF1A protein, human)
      0 (HNF4A protein, human)
      0 (Hepatocyte Nuclear Factor 1-alpha)
      0 (Hepatocyte Nuclear Factor 4)
      EC 2.7.11.1 (Protein Serine-Threonine Kinases)
    • Publication Date:
      Date Created: 20180208 Date Completed: 20180425 Latest Revision: 20231003
    • Publication Date:
      20231003
    • Accession Number:
      PMC10522060
    • Accession Number:
      10.1590/2359-3997000000312
    • Accession Number:
      29412391