Congenital hyperinsulinism - Swiss Society of Neonatology

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Fig. 7 Pancreatic ß-cell metabolism in response to glucose uptake. After glucose has entered the cell via the GLUT2 transporter, a phosphate moiety is added to the glucose molecule which then is metabolized in the mitochondria. The ATP produced competes with MgADP and closes the KATP channel. The subsequent depolarization opens the voltage-gated Ca 2+ channels and entrance of Ca 2+ in turn triggers exocytosis of the insulin secretory granules (from Ref.7). 14
15 which are characterized by ß cells with enlarged nuclei surrounded by normal tissue. In contrast, diffuse pancreatic disease affects all the ß cells within the islets of Langerhans (1). The focal form of CHI exhibits a particular genetic pattern with a paternally inherited mutation on chromosome 11p15.1 and a loss of the maternal allele specifically in the cells of the focal lesion (4). The majority of patients with diffuse disease have homozygous or compound heterozygous mutations in ABCC8 and KCNJ11. Advances in diagnostic imaging have revolutionized the ability to localize lesions in the pancreas by the introduction of integrated 18FDOPA-PET-CT that merges anatomical and functional data. L-DOPA is adsorbed by neuroendocrine and pancreas islet cells and metabolized into dopamine. Beta cells of the pancreas possess dopamine receptors. The uptake of 18FDOPA is considerably increased in foci with high insulin synthesis rates. It is not only possible to differentiate between diffuse and focal forms with high sensitivity and specificity, but localization of the focus can also be provided with a formerly unthinkable precision of up to a few millimetres (5). The goal of treatment in infants with CHI is to maintain plasma glucose levels > 4 mmol/l. Long-term treatment with diazoxide has dramatically reduced the need for extensive surgical procedures. Diazoxide acts by keeping the KATP channel open, thereby preventing depolarisation of the ß cell membrane and insulin secretion.
Page 1 and 2: SWISS SOCIETY OF NEONATOLOGY Congen
Page 3 and 4: 3 Congenital hyperinsulinism (CHI)
Page 5 and 6: 5 A C Enhanced activity in the head
Page 7 and 8: 7 noted and regular glucose measure
Page 9 and 10: 9 Focal adenomatous hyperplasia wit
Page 11 and 12: 11 Patient at the age of 3 years: n
Page 13: 13 reported in a number of these ge
Page 17 and 18: 17 A B Diffuse CHI (A) involves the
Page 19 and 20: 19 1. Kapoor R, Flanagan S, Hussain

Congenital hyperinsulinism - Swiss Society of Neonatology

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