Abstract
We describe a patient with congenital hyperinsulinism with previously unreported pathological findings including normal to decreased number of insulin-positive cells with very few enlarged nuclei, aberrant distribution of glucagon-positive cells, and a non-insulin producing adenomatous focus of unusual morphology. Molecular analysis showed that the patient was a compound heterozygote for two mutations of the ABCC8 gene: a previously unreported nonsense mutation (R841X) and a missense mutation (D1471N) that has been previously described. This case suggests that abnormal function of ABCC8 may result in aberrant pancreatic development.
MeSH terms
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ATP-Binding Cassette Transporters / genetics*
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Blood Glucose / metabolism
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Codon, Nonsense / genetics*
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Glucagon / metabolism
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Humans
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Hyperinsulinism / congenital*
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Hyperinsulinism / genetics
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Hypoglycemia / etiology
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Hypoglycemia / pathology
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Infant, Newborn
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Insulin / metabolism
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Male
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Mutation, Missense / genetics*
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Pancreas / abnormalities*
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Pancreatectomy
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Polymerase Chain Reaction
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Potassium Channels, Inwardly Rectifying / genetics*
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Receptors, Drug / genetics*
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Sulfonylurea Receptors
Substances
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ATP-Binding Cassette Transporters
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Blood Glucose
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Codon, Nonsense
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Insulin
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Potassium Channels, Inwardly Rectifying
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Receptors, Drug
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Sulfonylurea Receptors
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Glucagon