Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Abstract Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genet...

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Bibliographic Details
Main Authors: Caroline M. Joyce, Jayne A. Houghton, Domhnall J. O’Halloran, Paula M. O’Shea, Susan M. O’Connell
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Clinical Case Reports
Subjects:
18F‐DOPA
diabetes mellitus
Congenital hyperinsulinism
hypoglycemia
loss of heterozygosity
Online Access:https://doi.org/10.1002/ccr3.2885

Internet

https://doi.org/10.1002/ccr3.2885

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