Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
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.
Brunetti-Pierri
Nicola
N
Department of Molecular and Human Genetics, Baylor College of Medicine, and Department of Pathology, Texas Children's Hospital, 6621 Fannin St. MC2-2261, Houston, TX 77030, USA.
Olutoye
Oluyinka O
OO
Heptulla
Rubina
R
Tatevian
Nina
N
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001786:Blood Glucose / Q000378:metabolism; D018389:Codon, Nonsense / Q000235:genetics*; D005934:Glucagon / Q000378:metabolism; D006801:Humans; D006946:Hyperinsulinism / Q000151:congenital* / Q000235:genetics; D007003:Hypoglycemia / Q000209:etiology / Q000473:pathology; D007231:Infant, Newborn; D007328:Insulin / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010179:Pancreas / Q000002:abnormalities*; D010180:Pancreatectomy; D016133:Polymerase Chain Reaction; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D064233:Sulfonylurea Receptors
D018528:ATP-Binding Cassette Transporters; D001786:Blood Glucose; D018389:Codon, Nonsense; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D005934:Glucagon