AUTHOR=Craigie Ross J. , Salomon-Estebanez Maria , Yau Daphne , Han Bing , Mal Walaa , Newbould Melanie , Cheesman Edmund , Bitetti Stefania , Mohamed Zainab , Sajjan Rakesh , Padidela Raja , Skae Mars , Flanagan Sarah , Ellard Sian , Cosgrove Karen E. , Banerjee Indraneel , Dunne Mark J.
TITLE=Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions
JOURNAL=Frontiers in Endocrinology
VOLUME=9
YEAR=2018
URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2018.00619
DOI=10.3389/fendo.2018.00619
ISSN=1664-2392
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.