Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and manag
- PDF / 2,381,348 Bytes
- 21 Pages / 595.276 x 790.866 pts Page_size
- 86 Downloads / 179 Views
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management Maria Gϋemes 1,2,3 & Sofia Asim Rahman 1 & Ritika R. Kapoor 4 & Sarah Flanagan 5 & Jayne A. L. Houghton 5,6 & Shivani Misra 7 & Nick Oliver 7 & Mehul Tulsidas Dattani 1,2 & Pratik Shah 1,2
# The Author(s) 2020
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. Keywords Hyperinsulinism . Hypoglycemia . Sirolimus . Lanreotide . 18F-DOPA-PET . Transition to adult services
1 Introduction * Pratik Shah [email protected]; [email protected] 1
Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, Great Ormond Street, London WC1N 3JH, UK
2
Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK
3
Endocrinology Service, Hospital Infantil Universitario Niño Jesús, Madrid, Spain
4
Pediatric Diabetes and Endocrinology, King’s College Hospital NHS Trust, Denmark Hill, London, UK
5
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
6
Royal Devon and Exeter Foundation Trust, Exeter, UK
7
Department of Diabetes, Endocrinology and Metabolic Medicine, Faculty of Medicine, Imperial College Healthcare NHS Trust, London, UK
Glucose is one of the principal energy substrates, providing half of the body’s total energy requirements. As the brain can neither synthesize nor store mor
Data Loading...
