DETECTION OF NEONATAL DIABETES

Key words: Neonatal diabetes, Genetic polymorphism, K+ channels, Uniparental disomy, Sulfonylureas

Detection of diabetes during neonatal age is very infrequent. Nonetheless early diagnosis is crucial since if not promptly treated with insuline, neonatal diabetes (ND) has a critical course. We report the case of a female neonate, born with birth weight of 1970 g (SGA). The neonate had neither dysmorphic features nor clinical and biochemical evidence of acidosis and ketosis. Hyperglycaemia was not present until the fourteenth day of life when it was first discovered on follow-up. ND is underlined by several different genetic defects that may involve biosynthesis and secretion of insuline as well as control of the number of pancreatic beta-cells during fetal growth. No autoimmune markers are yet found. Genetic pattern is related to the clinical course of ND (transient or permanent) as well as to response to therapy.