نتایج جستجو برای: congenital hyperinsulinism
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Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cau...
BACKGROUND/PURPOSE Congenital hyperinsulinism (HI) causes severe hypoglycemia in neonates and infants. Recessive mutations of the beta-cell K(ATP) channel genes cause diffuse HI, whereas loss of heterozygosity together with inheritance of a paternal mutation cause focal adenomatous HI. Although these 2 forms of HI are clinically identical, focal HI can be cured surgically. The authors reviewed ...
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