Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia

Keith J. Lindley; Mark J. Dunne

doi:10.1016/j.earlhumdev.2004.10.007

Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia

Keith J. Lindley, Mark J. Dunne

Research output: Contribution to journal › Article › peer-review

Abstract

Congenital hyperinsulinism (CHI) is a genetically and phenotypically diverse syndrome. Key management issues involve early diagnosis by ensuring that appropriate samples are taken at the point of hypoglycaemia, prevention of recurrent hypoglycaemia, and detailed charcterisation of the clinical, biochemical, and genetic features of each case. Infants with persistent diazoxide resistant CHI require evaluation at specialist referral centres equipped to differentiate those with focal (fo-HI) and diffuse (di-HI) pancreatic disease. Fo-HI is treated with selective pancreatic resection but di-HI is treated by surgery only if intensive medical management regimes are not efficacious. © 2004 Elsevier Ireland Ltd. All rights reserved.

Original language	English
Pages (from-to)	61-72
Number of pages	11
Journal	Early Human Development
Volume	81
Issue number	1
DOIs	https://doi.org/10.1016/j.earlhumdev.2004.10.007
Publication status	Published - Jan 2005

Keywords

β-cell
ABCC8
GCK
GLUD1
HADHSC
Hyperinsulinism
Hypoglycaemia
KCNJ11

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10.1016/j.earlhumdev.2004.10.007

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abstract = "Congenital hyperinsulinism (CHI) is a genetically and phenotypically diverse syndrome. Key management issues involve early diagnosis by ensuring that appropriate samples are taken at the point of hypoglycaemia, prevention of recurrent hypoglycaemia, and detailed charcterisation of the clinical, biochemical, and genetic features of each case. Infants with persistent diazoxide resistant CHI require evaluation at specialist referral centres equipped to differentiate those with focal (fo-HI) and diffuse (di-HI) pancreatic disease. Fo-HI is treated with selective pancreatic resection but di-HI is treated by surgery only if intensive medical management regimes are not efficacious. {\textcopyright} 2004 Elsevier Ireland Ltd. All rights reserved.",

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AB - Congenital hyperinsulinism (CHI) is a genetically and phenotypically diverse syndrome. Key management issues involve early diagnosis by ensuring that appropriate samples are taken at the point of hypoglycaemia, prevention of recurrent hypoglycaemia, and detailed charcterisation of the clinical, biochemical, and genetic features of each case. Infants with persistent diazoxide resistant CHI require evaluation at specialist referral centres equipped to differentiate those with focal (fo-HI) and diffuse (di-HI) pancreatic disease. Fo-HI is treated with selective pancreatic resection but di-HI is treated by surgery only if intensive medical management regimes are not efficacious. © 2004 Elsevier Ireland Ltd. All rights reserved.

KW - β-cell

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KW - GCK

KW - GLUD1

KW - HADHSC

KW - Hyperinsulinism

KW - Hypoglycaemia

KW - KCNJ11

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SP - 61

EP - 72

JO - Early Human Development

JF - Early Human Development

IS - 1

ER -

Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia

Abstract

Keywords

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