Journal of Contemporary Medicine (May 2022)

A Case of Maturity onset diabetes of the young: just keep of mınd

  • Ebru Marzioğlu Özdemir,
  • İlhan Abidin,
  • Nesibe Akyürek

DOI
https://doi.org/10.16899/jcm.931808
Journal volume & issue
Vol. 12, no. 3
pp. 476 – 477

Abstract

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Maturityonsetdiabetes of theyoung (MODY) is a monogenic, autosomal dominant form of diabetescharacterisedbymutations in genesresulting in dysfunction of pancreatic β-cellsandsubsequentinsulinproduction. Thecurrentstrategyforidentifyingpatientswith a potential MODY mutation is touseclinicalcharacteristicssuch as youngonset of diabetes,an autosomaldomınatpattern of inheritanceandnon-ınsulındependence(1). HNF1A-MODY is nonketoticdiabeteswithonsetduringchildhood, adolescence, orearlyadulthood, progressivecharacter of hyperglycemiawith a high risk forchronicmicrovasculardiabetescomplications(2). Wepresent a childwith HNF1A-MODYduetoa newmutationHNF1-A gene (c,787C gt;T (p. R263C) (c. Arg263ys)) diagnosedincidentally.

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