Guemes, M;
Rahman, SA;
Kapoor, RR;
Flanagan, S;
Houghton, JAL;
Misra, S;
Oliver, N;
... Shah, P; + view all
(2020)
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Reviews in Endocrine and Metabolic Disorders
10.1007/s11154-020-09548-7.
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Abstract
Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release, leading to persistently low blood glucose concentrations with lack of alternative fuels, which increases the risk of neurological damage in these patients. It is the most common cause of persistent and recurrent hypoglycemia in the neonatal period. HH may be primary, Congenital HH (CHH), when it is associated with variants in a number of genes implicated in pancreatic development and function. Alterations in fifteen genes have been recognized to date, being some of the most recently identified mutations in genes HK1, PGM1, PMM2, CACNA1D, FOXA2 and EIF2S3. Alternatively, HH can be secondary when associated with syndromes, intra-uterine growth restriction, maternal diabetes, birth asphyxia, following gastrointestinal surgery, amongst other causes. CHH can be histologically characterized into three groups: diffuse, focal or atypical. Diffuse and focal forms can be determined by scanning using fluorine-18 dihydroxyphenylalanine-positron emission tomography. Newer and improved isotopes are currently in development to provide increased diagnostic accuracy in identifying lesions and performing successful surgical resection with the ultimate aim of curing the condition. Rapid diagnostics and innovative methods of management, including a wider range of treatment options, have resulted in a reduction in co-morbidities associated with HH with improved quality of life and long-term outcomes. Potential future developments in the management of this condition as well as pathways to transition of the care of these highly vulnerable children into adulthood will also be discussed.
| Type: | Article |
|---|---|
| Title: | Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s11154-020-09548-7 |
| Publisher version: | http://doi.org/10.1007/s11154-020-09548-7 |
| Language: | English |
| Additional information: | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, Hyperinsulinism, Hypoglycemia, Sirolimus, Lanreotide, 18F-DOPA-PET, Transition to adult services, POSITRON-EMISSION-TOMOGRAPHY, PERSISTENT CONGENITAL HYPERINSULINISM, GLUCAGON-LIKE PEPTIDE-1, ADULT CARE, INSULIN-SECRETION, SIROLIMUS THERAPY, YOUNG-ADULTS, FOCAL FORMS, DEHYDROGENASE-DEFICIENCY, PULMONARY-HYPERTENSION |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10095016 |
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