Document Detail

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.
MedLine Citation:
PMID:  22231386     Owner:  NLM     Status:  MEDLINE    
Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is essential to prevent the potentially associated complications like epilepsy, cerebral palsy and neurological impairment. The molecular basis of HH involves defects in key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and UCP2) which regulate insulin secretion. The most severe forms of HH are due to loss of function mutations in ABCC8/KCNJ11 which encode the SUR1 and KIR6.2 components respectively of the pancreatic β-cell K(ATP) channel. At a histological level there are two major forms (diffuse and focal) each with a different genetic aetiology. The diffuse form is inherited in an autosomal recessive (or dominant) manner whereas the focal form is sporadic in inheritance and is localised to a small region of the pancreas. The focal form can now be accurately localised pre-operatively using a specialised positron emission tomography scan with the isotope Fluroine-18L-3, 4-dihydroxyphenyalanine (18F-DOPA-PET). Focal lesionectomy can provide cure from the hypoglycaemia. However the diffuse form is managed medically or by near total pancreatectomy (with high risk of diabetes mellitus). Recent advances in molecular genetics, imaging with 18F-DOPA-PET/CT and novel surgical techniques have changed the clinical approach to patients with HH.
Senthil Senniappan; Balasubramaniam Shanti; Chela James; Khalid Hussain
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Publication Detail:
Type:  Journal Article; Review     Date:  2012-01-10
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  35     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-07-03     Completed Date:  2013-02-05     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  589-601     Citation Subset:  IM    
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MeSH Terms
Congenital Hyperinsulinism / diagnosis*,  genetics*,  pathology,  therapy
Insulin / metabolism
Insulin-Secreting Cells / metabolism,  pathology
Multimodal Imaging / methods
Pancreatectomy / methods
Positron-Emission Tomography
Tomography, X-Ray Computed
Grant Support
G1001821//Medical Research Council
Reg. No./Substance:

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