Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age

Ved Bhushan Arya; Sarah E Flanagan; Anitha Kumaran; Julian P Hamilton-Shield; Sian Ellard; Khalid Hussain; Ritika R Kapoor

doi:10.1136/archdischild-2012-302880

Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age

Ved Bhushan Arya, Sarah E Flanagan, Anitha Kumaran, Julian P Hamilton-Shield, Sian Ellard, Khalid Hussain, Ritika R Kapoor

Bristol Medical School (THS)

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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Abstract

Objective To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight <10th centile) who developed hyperinsulinaemic hypoglycaemia (HH).

Methods Clinical information was prospectively collected on 27 SGA neonates with HH, followed by sequencing of KCNJ11 and ABCC8.

Results There was no correlation between the maximum glucose requirement and serum insulin levels. Serum insulin level was undetectable in five infants (19%) during hypoglycaemia. Six infants (22%) required diazoxide treatment >6 months. Normoglycaemia on diazoxide <5 mg/kg/day was a safe predictor of resolved HH. Sequencing of KCNJ11/ABCC8 did not identify any mutations.

Conclusions Serum insulin levels during hypoglycaemia taken in isolation can miss the diagnosis of HH. SGA infants may continue to have hypofattyacidaemic hypoketotic HH beyond the first few weeks of life. Recognition and treatment of this group of patients are important and may have important implications for neurodevelopmental outcome of these patients.

Original language	English
Pages (from-to)	F356-F359
Number of pages	4
Journal	Archives of Disease in Childhood: Fetal and Neonatal Edition
Volume	98
Issue number	4
Early online date	29 Jan 2013
DOIs	https://doi.org/10.1136/archdischild-2012-302880
Publication status	Published - Jul 2013

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@article{b88dba7366cd4f198e093dffa20e891d,

title = "Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age",

abstract = "Objective To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight <10th centile) who developed hyperinsulinaemic hypoglycaemia (HH).Methods Clinical information was prospectively collected on 27 SGA neonates with HH, followed by sequencing of KCNJ11 and ABCC8.Results There was no correlation between the maximum glucose requirement and serum insulin levels. Serum insulin level was undetectable in five infants (19%) during hypoglycaemia. Six infants (22%) required diazoxide treatment >6 months. Normoglycaemia on diazoxide <5 mg/kg/day was a safe predictor of resolved HH. Sequencing of KCNJ11/ABCC8 did not identify any mutations.Conclusions Serum insulin levels during hypoglycaemia taken in isolation can miss the diagnosis of HH. SGA infants may continue to have hypofattyacidaemic hypoketotic HH beyond the first few weeks of life. Recognition and treatment of this group of patients are important and may have important implications for neurodevelopmental outcome of these patients.",

author = "Arya, {Ved Bhushan} and Flanagan, {Sarah E} and Anitha Kumaran and Hamilton-Shield, {Julian P} and Sian Ellard and Khalid Hussain and Kapoor, {Ritika R}",

year = "2013",

month = jul,

doi = "10.1136/archdischild-2012-302880",

language = "English",

volume = "98",

pages = "F356--F359",

journal = "Archives of Disease in Childhood: Fetal and Neonatal Edition",

issn = "1359-2998",

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number = "4",

}

Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age. / Arya, Ved Bhushan; Flanagan, Sarah E; Kumaran, Anitha et al.
In: Archives of Disease in Childhood: Fetal and Neonatal Edition, Vol. 98, No. 4, 07.2013, p. F356-F359.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age

AU - Arya, Ved Bhushan

AU - Flanagan, Sarah E

AU - Kumaran, Anitha

AU - Hamilton-Shield, Julian P

AU - Ellard, Sian

AU - Hussain, Khalid

AU - Kapoor, Ritika R

PY - 2013/7

Y1 - 2013/7

N2 - Objective To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight <10th centile) who developed hyperinsulinaemic hypoglycaemia (HH).Methods Clinical information was prospectively collected on 27 SGA neonates with HH, followed by sequencing of KCNJ11 and ABCC8.Results There was no correlation between the maximum glucose requirement and serum insulin levels. Serum insulin level was undetectable in five infants (19%) during hypoglycaemia. Six infants (22%) required diazoxide treatment >6 months. Normoglycaemia on diazoxide <5 mg/kg/day was a safe predictor of resolved HH. Sequencing of KCNJ11/ABCC8 did not identify any mutations.Conclusions Serum insulin levels during hypoglycaemia taken in isolation can miss the diagnosis of HH. SGA infants may continue to have hypofattyacidaemic hypoketotic HH beyond the first few weeks of life. Recognition and treatment of this group of patients are important and may have important implications for neurodevelopmental outcome of these patients.

AB - Objective To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight <10th centile) who developed hyperinsulinaemic hypoglycaemia (HH).Methods Clinical information was prospectively collected on 27 SGA neonates with HH, followed by sequencing of KCNJ11 and ABCC8.Results There was no correlation between the maximum glucose requirement and serum insulin levels. Serum insulin level was undetectable in five infants (19%) during hypoglycaemia. Six infants (22%) required diazoxide treatment >6 months. Normoglycaemia on diazoxide <5 mg/kg/day was a safe predictor of resolved HH. Sequencing of KCNJ11/ABCC8 did not identify any mutations.Conclusions Serum insulin levels during hypoglycaemia taken in isolation can miss the diagnosis of HH. SGA infants may continue to have hypofattyacidaemic hypoketotic HH beyond the first few weeks of life. Recognition and treatment of this group of patients are important and may have important implications for neurodevelopmental outcome of these patients.

U2 - 10.1136/archdischild-2012-302880

DO - 10.1136/archdischild-2012-302880

M3 - Article (Academic Journal)

C2 - 23362136

SN - 1359-2998

VL - 98

SP - F356-F359

JO - Archives of Disease in Childhood: Fetal and Neonatal Edition

JF - Archives of Disease in Childhood: Fetal and Neonatal Edition

IS - 4

ER -

Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age

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