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
References
- 1) McDonald TJ, Ellard S. Maturityonsetdiabetes of theyoung: identificationanddiagnosis. AnnClinBiochem. 2013; 50.403-15.
- 2)Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinicalfeatures, diagnosisandmanagement of maternallyinheriteddiabetesanddeafness(MIDD) associatedwiththe 3243A>G mitochondrialpointmutation.DiabetMed. 2008;25:383-99.
- 3)AmericanDiabetesAssociation. Classificationanddiagnosis of diabetes. DiabetesCare. 2015 Jan; 38(Suppl):S8–S16. 4) Yamagata K, Furuta H, Oda N, et al. Mutations in thehepatocytenuclear factor-4alpha gene in maturity-onsetdiabetes of theyoung (MODY1). Nature. 1996 ; 384(6608):458–60.
- 5)Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in thehepatocytenuclear factor-1alpha gene in maturity-onsetdiabetes of theyoung (MODY3). Nature. 1996; 384(6608):455–8.
- 6)Thanabalasingham G, Owen KR. Diagnosisandmanagement of maturityonsetdiabetes of theyoung (MODY). BMJ. 2011;343:d6044.
- 7) Shepherd M, Sparkes AC andHattersley A. Genetictestingin maturityonsetdiabetes of theyoung (MODY): anewchallengeforthediabeticclinic. PractDiabInt 2001;18: 16–21.
- 8) Harries LW, Ellard S, StrideA,Morgan NG andHattersleyAT.Isomers of the TCF1 gene encodinghepatocytenuclear factor-1 alphashowdifferentialexpressionin thepancreasand define therelationshipbetweenmutationpositionandclinicalphenotype in monogenicdiabetes. Hum MolGenet2006;15:2216–24.
- 9) Stride A, Vaxillaire M, Tuomi T, et al. Thegeneticabnormalityin the beta celldeterminestheresponseto an oralglucoseload. Diabetologia 2002; 45: 427–35.
- 10) Pontoglio M, Prie D, Cheret C, et al. HNF1alpha controlsrenalglucosereabsorption in mouseand man.EMBO Reports 2000; 1: 359–65.
- 11)Isomaa B, Henricsson M, Lehto M, et al. Chronicdiabeticcomplications in patientswith MODY3 diabetes.Diabetologia 1998; 41: 467–73.
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
References
- 1) McDonald TJ, Ellard S. Maturityonsetdiabetes of theyoung: identificationanddiagnosis. AnnClinBiochem. 2013; 50.403-15.
- 2)Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinicalfeatures, diagnosisandmanagement of maternallyinheriteddiabetesanddeafness(MIDD) associatedwiththe 3243A>G mitochondrialpointmutation.DiabetMed. 2008;25:383-99.
- 3)AmericanDiabetesAssociation. Classificationanddiagnosis of diabetes. DiabetesCare. 2015 Jan; 38(Suppl):S8–S16. 4) Yamagata K, Furuta H, Oda N, et al. Mutations in thehepatocytenuclear factor-4alpha gene in maturity-onsetdiabetes of theyoung (MODY1). Nature. 1996 ; 384(6608):458–60.
- 5)Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in thehepatocytenuclear factor-1alpha gene in maturity-onsetdiabetes of theyoung (MODY3). Nature. 1996; 384(6608):455–8.
- 6)Thanabalasingham G, Owen KR. Diagnosisandmanagement of maturityonsetdiabetes of theyoung (MODY). BMJ. 2011;343:d6044.
- 7) Shepherd M, Sparkes AC andHattersley A. Genetictestingin maturityonsetdiabetes of theyoung (MODY): anewchallengeforthediabeticclinic. PractDiabInt 2001;18: 16–21.
- 8) Harries LW, Ellard S, StrideA,Morgan NG andHattersleyAT.Isomers of the TCF1 gene encodinghepatocytenuclear factor-1 alphashowdifferentialexpressionin thepancreasand define therelationshipbetweenmutationpositionandclinicalphenotype in monogenicdiabetes. Hum MolGenet2006;15:2216–24.
- 9) Stride A, Vaxillaire M, Tuomi T, et al. Thegeneticabnormalityin the beta celldeterminestheresponseto an oralglucoseload. Diabetologia 2002; 45: 427–35.
- 10) Pontoglio M, Prie D, Cheret C, et al. HNF1alpha controlsrenalglucosereabsorption in mouseand man.EMBO Reports 2000; 1: 359–65.
- 11)Isomaa B, Henricsson M, Lehto M, et al. Chronicdiabeticcomplications in patientswith MODY3 diabetes.Diabetologia 1998; 41: 467–73.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Report |
| Authors | |
| Publication Date | May 30, 2022 |
| Acceptance Date | January 5, 2022 |
| Published in Issue | Year 2022 Volume: 12 Issue: 3 |
