MODY TİP DİYABET OLGU SUNUMU : Sadece Akılda Tutun

Year 2022, , 476 - 477, 30.05.2022

Nesibe Akyürek , İlhan Abidin , Ebru Marzioğlu Özdemir

https://doi.org/10.16899/jcm.931808

Abstract

MODY tip diyabet, pankreas β hücrelerinin işlev bozukluğu ve ardından insülin üretimi ile sonuçlanan, monojenik, otozomal dominant bir diyabet formudur.
MODY tanısına sahip olan hastaları belirlemek için mevcut strateji, diyabetin genç yaşta başlaması, otozomal dominant kalıtım ve insülin gereksiniminin olmamaması gibi klinik özellikleri saptamaktır.
HNF1A-MODY, kronik mikrovasküler diyabet komplikasyonları açısından yüksek riskli, hipergliseminin ilerleyici karakterde olduğu, çocukluk, ergenlik veya erken yetişkinlik döneminde başlayan, ketotik olmayan diyabet tipidir (1).
Bu yazıda rastlantısal tanıalan HNF1-A geninde yeni bir (c, 787C> T (p.R263C) (c.Arg263ys)) gen mutasyonuna bağlı HNF1A-MODY 3 tanısı alan bir hasta sunuldu.

Keywords

MODY, HİPERGLİSEMİ, diyabet

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

Abstract

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>T (p. R263C) (c. Arg263ys)) diagnosedincidentally.

Keywords

mody, hyperglycemia, diabetes

References

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