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Hyperinsulinism: molecular aetiology of focal disease

1998; BMJ; Volume: 79; Issue: 5 Linguagem: Inglês

10.1136/adc.79.5.445

1468-2044

Fergus Ryan, Dawn Devaney, Caroline Joyce, Ann Nestorowicz, M. Alan Permutt, Benjamin Gläser, David Barton, Paul Thornton,

Diabetes Management and Research

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 cause of focal hyperinsulinism.