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Front Endocrinol (Lausanne). 2018 Oct 17;9:619. doi: 10.3389/fendo.2018.00619. eCollection 2018.

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.

Author information

1
Paediatric Surgery, Royal Manchester Children's Hospital, University Manchester NHS Foundation Trust (MFT), Manchester, United Kingdom.
2
Faculty of Biology, Medicine & Health, University of Manchester, Manchester, United Kingdom.
3
Paediatric Endocrinology, Royal Manchester Children's Hospital, University Manchester NHS Foundation Trust (MFT), Manchester, United Kingdom.
4
Paediatric Histopathology, Royal Manchester Children's Hospital, University Manchester NHS Foundation Trust (MFT), Manchester, United Kingdom.
5
Nuclear Medicine, Royal Manchester Children's Hospital, University Manchester NHS Foundation Trust (MFT), Manchester, United Kingdom.
6
Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, United Kingdom.

Abstract

Background: Congenital Hyperinsulinism (CHI) is an important cause of severe and persistent hypoglycaemia in infancy and childhood. The focal form (CHI-F) of CHI can be potentially cured by pancreatic lesionectomy. While diagnostic characteristics of CHI-F pancreatic histopathology are well-recognized, correlation with clinical phenotype has not been established. Aims: We aimed to correlate the diversity in clinical profiles of patients with islet cell organization in CHI-F pancreatic tissue. Methods: Clinical datasets were obtained from 25 patients with CHI-F due to ABCC8/KCNJ11 mutations. 18F-DOPA PET-CT was used to localize focal lesions prior to surgery. Immunohistochemistry was used to support protein expression studies. Results: In 28% (n = 7) of patient tissues focal lesions were amorphous and projected into adjoining normal pancreatic tissue without clear delineation from normal tissue. In these cases, severe hypoglycaemia was detected within, on average, 2.8 ± 0.8 (range 1-7) days following birth. By contrast, in 72% (n = 18) of tissues focal lesions were encapsulated within a defined matrix capsule. In this group, the onset of severe hypoglycaemia was generally delayed; on average 46.6 ± 14.3 (range 1-180) days following birth. For patients with encapsulated lesions and later-onset hypoglycaemia, we found that surgical procedures were curative and less complex. Conclusion: CHI-F is associated with heterogeneity in the organization of focal lesions, which correlates well with clinical presentation and surgical outcomes.

KEYWORDS:

congenital hyperinsulinism; focal; hypoglycaemia; insulin; islet; pancreas; positron emission tomography; β-cell

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