MODY TİP DİYABET OLGU SUNUMU : Sadece Akılda Tutun

Öz

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.

Anahtar Kelimeler

• MODY
• HİPERGLİSEMİ
• diyabet

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

Öz

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.

Anahtar Kelimeler

• mody
• hyperglycemia
• diabetes

Kaynakça

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