| Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. | |
| | |
MedLine Citation:
|
PMID: 22231386 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Senthil Senniappan; Balasubramaniam Shanti; Chela James; Khalid Hussain |
Related Documents
:
|
17430946 - Selection responses for disease resistance in two selection experiments with norwegian ... 22719876 - Genetic polymorphisms of the human pnpla3 gene are strongly associated with severity of... 11736806 - Microsatellite diversity, pedigree relatedness and the contributions of founder lineage... 15876686 - Inbreeding and relationship in polish black-and-white sires. 23597286 - Relationships between conception rate in holstein heifers and cows and milk yield at va... 21564596 - Twelve nuclear microsatellite loci for rice stem borer (chilo suppressalis w.). |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-1-10 |
Journal Detail:
|
Title: Journal of inherited metabolic disease Volume: - ISSN: 1573-2665 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
|
Created Date: 2012-1-10 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Trust WC1N 3JH and the Institute of Child Health, University College London, London, WC1N 1EH, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics a...
Next Document: Delayed gastric emptying using (13) C octanoic acid breath test in systemic sclerosis.