ea0011p283 | Diabetes, metabolism and cardiovascular | ECE2006
Brusgaard K
, Christesen HBT
, Hansen T
, Njölstad P
, Malec J
, Brock Jacobsen B
In congenital hyperinsulinism (CHI), mutations have been found in 5 different genes, ABCC8, KCNJ11, GCK, GLUD1 and SCHAD. In approximately 50% of all cases, however, no genetic explanation can be found.A mature newborn girl presented macrosomic, birth weight 4378 g, and a blood glucose down to 1.3 mmol/l at day 1. Hyperinsulinism was documented. The child responded to diazoxide treatment, initially in combination with prednisolone, chlorothiazide and oct...