Clinical and Laboratory Characteristics of MODY (Maturity Onset Diabetes of Young) Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.
Elif ÖzsuSemra ÇetinkayaSemih BoluNihal HatipoğluŞenay Savaş ErdeveOlcay EvliyaoğluFirdevs BaşAtilla Çayırİsmail DündarEmine Demet AkbaşSeyid Ahmet UçaktürkMerih BerberoğluZeynep ŞıklarŞervan ÖzalkakNursel Muratoğlu ŞahinMelikşah KeskinÜlkü Gül ŞirazHande TuranAyşe Pınar ÖztürkEda MengenElif SağsakFatma DursunNesibe AkyürekSevinç Odabaşı GuneşZehra AycanPublished in: Journal of clinical research in pediatric endocrinology (2024)
This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.
Keyphrases
- end stage renal disease
- type diabetes
- newly diagnosed
- ejection fraction
- chronic kidney disease
- cardiovascular disease
- prognostic factors
- peritoneal dialysis
- metabolic syndrome
- systemic lupus erythematosus
- gene expression
- genome wide
- glycemic control
- insulin resistance
- toll like receptor
- patient reported
- case report