Case report: Pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations

Nicola Brunetti-Pierri, Oluyinka O. Olutoye, Rubina Heptulla, Nina Tatevian

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)386-389
Number of pages4
JournalAnnals of Clinical and Laboratory Science
Volume38
Issue number4
StatePublished - Sep 2008
Externally publishedYes

Fingerprint

Congenital Hyperinsulinism
Cells
Mutation
Nonsense Codon
Missense Mutation
Heterozygote
Glucagon
Genes
Insulin

Keywords

  • ABCC8 gene mutation
  • Congenital hyperinsulinism
  • Glucagon
  • Pancreatic development

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Immunology and Allergy
  • Hematology
  • Medical Laboratory Technology
  • Microbiology
  • Molecular Biology
  • Clinical Biochemistry
  • Immunology

Cite this

Case report : Pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. / Brunetti-Pierri, Nicola; Olutoye, Oluyinka O.; Heptulla, Rubina; Tatevian, Nina.

In: Annals of Clinical and Laboratory Science, Vol. 38, No. 4, 09.2008, p. 386-389.

Research output: Contribution to journalArticle

Brunetti-Pierri, Nicola ; Olutoye, Oluyinka O. ; Heptulla, Rubina ; Tatevian, Nina. / Case report : Pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. In: Annals of Clinical and Laboratory Science. 2008 ; Vol. 38, No. 4. pp. 386-389.
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