Document Detail

The heterogeneity of focal forms of congenital hyperinsulinism.
MedLine Citation:
PMID:  22031516     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia due to unregulated insulin secretion from pancreatic β-cells. Histologically, there are two major subgroups, focal and diffuse. Focal CHI is typically unresponsive to diazoxide and can be cured with surgical removal of the focal lesion.
AIMS: We report on three patients with focal CHI to illustrate the marked clinical, genetic, radiological, and histological heterogeneity.
METHODS AND RESULTS: The first two patients had focal CHI due to a paternal (c.3992-9G→A) ABCC8 mutation. One of these patients was fully responsive to a small dose (5 mg/kg · d) of diazoxide, whereas the other patient was medically unresponsive. In both patients, the focal lesions were accurately localized preoperatively by [(18)F]dihydroxyphenylalanine (DOPA) positron emission tomography (PET) and surgically resected. The third patient had a paternally inherited ABCC8 (A1493T) mutation, and the initial [(18)F]DOPA PET scan indicated extensive uptake of DOPA in the body and tail of the pancreas. However, despite surgical resection of the body and tail, this patient continued to have severe CHI. A subsequent [(18)F]DOPA PET scan now showed markedly increased DOPA uptake in the remaining body and head of the pancreas. This focal lesion occupied virtually the whole of the pancreas. conclusions: These three cases illustrate that focal lesions even with the same genotype (c.3992-9G→A) may have a different clinical presentation and that [(18)F]DOPA PET scans in very large focal lesions may be difficult to interpret.
Dunia Ismail; Ritika R Kapoor; Virpi V Smith; Michael Ashworth; Oliver Blankenstein; Agostino Pierro; Sarah E Flanagan; Sian Ellard; Khalid Hussain
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-10-26
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  97     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-01-06     Completed Date:  2012-02-27     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  E94-9     Citation Subset:  AIM; IM    
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MeSH Terms
ATP-Binding Cassette Transporters / genetics
Congenital Hyperinsulinism / diagnosis*,  genetics*,  pathology*,  radionuclide imaging
DNA Mutational Analysis
Dihydroxyphenylalanine / diagnostic use
Fluorine Radioisotopes / diagnostic use
Genetic Heterogeneity*
Infant, Newborn
Loss of Heterozygosity
Models, Biological
Pancreas / pathology,  radionuclide imaging
Positron-Emission Tomography / methods
Potassium Channels, Inwardly Rectifying / genetics
Receptors, Drug / genetics
Sulfonylurea Receptors
Grant Support
G1001821//Medical Research Council; WT081188AIA//Wellcome Trust
Reg. No./Substance:
0/Fluorine Radioisotopes; 0/Potassium Channels, Inwardly Rectifying; 0/Receptors, Drug; 0/Sulfonylurea Receptors; 63-84-3/Dihydroxyphenylalanine

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