| The Heterogeneity of Focal Forms of Congenital Hyperinsulinism. | |
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MedLine Citation:
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PMID: 22031516 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2011-10-26 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: - ISSN: 1945-7197 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Departments of Endocrinology (D.I., R.R.K., K.H.), Surgery (V.V.S., A.P.), and Histology (M.A.), Great Ormond Street, Hospital for Children National Health Service Trust, London, and The Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; Institute of Biomedical and Clinical Science (S.E.F., S.E.), Peninsula Medical School, University of Exeter, London EX2 5DW, United Kingdom; and Department of Endocrinology (O.B.), Charité-University Medicine, 10117 Berlin, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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