小胎龄儿低血糖症患儿的临床和分子特征。
Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age.
机构信息
Developmental Endocrinology Research Group, Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, UK.
出版信息
Arch Dis Child Fetal Neonatal Ed. 2013 Jul;98(4):F356-8. doi: 10.1136/archdischild-2012-302880. Epub 2013 Jan 29.
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.
目的
描述发生高胰岛素血症性低血糖（HH）的小于胎龄儿（SGA；出生体重<第 10 百分位数）新生儿的表型和基因型。
方法
前瞻性收集 27 例发生 HH 的 SGA 新生儿的临床资料，随后对 KCNJ11 和 ABCC8 进行测序。
结果
最大葡萄糖需求量与血清胰岛素水平之间无相关性。低血糖期间有 5 名婴儿（19%）的血清胰岛素水平无法检测到。6 名婴儿（22%）需要使用二氮嗪治疗>6 个月。在<5mg/kg/天的二氮嗪下血糖正常是 HH 已解决的安全预测指标。对 KCNJ11/ABCC8 的测序未发现任何突变。
结论
单独检查低血糖期间的血清胰岛素水平可能会漏诊 HH。SGA 婴儿在生命的最初几周后可能会继续出现低脂肪血症性低酮性 HH。认识和治疗这群患者很重要，这可能对这些患者的神经发育结果有重要影响。
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