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Hyperinsulinism in Infancy: From Basic Science to Clinical Disease

DUNNE, MARK J., COSGROVE, KAREN E., SHEPHERD, RUTH M., AYNSLEY-GREEN, ALBERT, LINDLEY, KEITH J.·2004·Physiological Reviews

DOI 10.1152/physrev.00022.2003

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Dunne, Mark J., Karen E. Cosgrove, Ruth M. Shepherd, Albert Aynsley-Green, and Keith J. Lindley. Hyperinsulinism in Infancy: From Basic Science to Clinical Disease. Physiol Rev 84: 239–275, 2004; 10.1152/physrev.00022.2003.—Ion channelopathies have now been described in many well-characterized cell types including neurons, myocytes, epithelial cells, and endocrine cells. However, in only a few cases has the relationship between altered ion channel function, cell biology, and clinical disease been defined. Hyperinsulinism in infancy (HI) is a rare, potentially lethal condition of the newborn and early childhood. The causes of HI are varied and numerous, but in almost all cases they share a common target protein, the ATP-sensitive K+channel. From gene defects in ion channel subunits to defects in β-cell metabolism and anaplerosis, this review describes the relationship between pathogenesis and clinical medicine. Until recently, HI was generally considered an orphan disease, but as parallel defects in ion channels, enzymes, and metabolic pathways also give rise to diabetes and impaired insulin release, the HI paradigm has wider implications for more common disorders of the endocrine pancreas and the molecular physiology of ion transport.

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Nesidioblastosis in an Adult with Hyperinsulinemic Hypoglycemia.
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Ten years’ experience of persistent hyperinsulinaemic hypoglycaemia of infancy
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Congenital hyperinsulinism: current trends in diagnosis and therapy
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See all 294

Authors: DUNNE, M. J., COSGROVE, K. E., SHEPHERD, R. M., AYNSLEY-GREEN, A., & LINDLEY, K. J.
Venue: Physiological Reviews
Publisher: American Physiological Society
Published: 2004-01
Volume: 84
Issue: 1
Pages: 239-275
ISSN: 0031-9333 (ISSN-L)
1522-1210
DOI: 10.1152/physrev.00022.2003
OpenAlex: W2165848705
Cited by: 294
References: 300
FWCI: 4.54
Type: journal article
Language: en
Open access: closed

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Hyperinsulinism in Infancy: From Basic Science to Clinical Disease

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