Transient Neonatal Diabetes Mellitus with Maternal Methylation Loss

Yenidogan diyabeti, yasamin ilk alti ayinda baslayan, en az iki hafta sureyle insulin tedavisi gerektiren ve dusuk insulin seviyelerinin eslik ettigi hiperglisemi durumudur (1,2). Ilk kez 1852 yilinda Kitselle tarafindan kendi oglunda tanimlanan yenidogan diyabetinin gorulme sikligi 1/300,000400,000 olup, her iki cinsiyette esit olarak gorulur. Neonatal Neonatal diabetes mellitus is a state of hyperglycemia accompanied by a low level of insulin, starting in the first six months of life and requiring insulin therapy for at least two weeks. The incidence is 1/300.000 to 400.000 and seen in both gender equally. There are two clinical subtypes of neonatal diabetes including temporary and permanent types. Transient type of neonatal diabetes constitutes 50-60% of all cases. Mutations in the KCNJ11, ABCC8, INS or HNF1B genes are responsible for 20-26% of transient type of neonatal diabetes, while methylation loss of differentiated methylation sites of chromosome 6q24 locus is responsible for the vast majority (about 70%). The onset of disease can be immediately after birth and clinical manifestations are polyuria, dehydration and poor weight gain in the first six weeks of life. In this paper, a transient neonatal diabetes case which developed feeding intolerance on the first days of life with detected hyperglycemia requiring insulin therapy; and detected maternal loss of methylation on chromosome 6q24 is presented because of the rarity of the disease. The Journal of Pediatric Research 2015;2(1):49-52