Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.
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DOI：
10.1159/000076553
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发表时间：
2004-01-01
期刊：
影响因子：
--
通讯作者：
Aynsley-Green, A
中科院分区：
文献类型：
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作者：
Hussain, K;Bodamer, O A F;Aynsley-Green, A
背景：婴儿期和儿童期反复和持续的低酮症、低脂血酸型低血糖最常见的原因是婴儿期的高胰岛素血症。这种生化特征也可能是由于非胰岛细胞瘤、低血糖或循环中的胰岛素受体自身抗体所致。高胰岛素血症也见于Beckwith-Wiedemann综合征的儿童，通常是一过性的。方法/结果：我们报道了一个新的病例，儿童患有半身性肥大和严重的持续性低酮症、低脂酸血症性低血糖。没有发现“大”的前IGF2形式或循环中的胰岛素受体抗体。葡萄糖和蛋白质同位素周转研究表明，禁食期间肝脏葡萄糖的产生明显受到抑制。没有证据表明胰岛素或IGF-1受体的结构性自动磷酸化，也没有证据表明IGF-1受体上调。结论：该新病例的确切病理生理学仍不清楚。
BACKGROUND: Recurrent and persistent hypoketotic, hypofattyacidaemic hypoglycaemia in infancy and childhood is most frequently due to hyperinsulinism of infancy. This biochemical profile can also be due to non-islet cell tumour hypoglycaemia or circulating insulin-receptor autoantibodies. Hyperinsulinaemic hypoglycaemia is also seen in children with the Beckwith-Wiedemann syndrome, where it is usually transient.METHODS/RESULTS: We report a novel case of child with hemihypertrophy and severe persistent hypoketotic, hypofattyacidaemic hypoinsulinaemic hypoglycaemia. No 'big' pro-IGF2 forms or circulating insulin-receptor antibodies were found. Glucose and protein isotope turnover studies showed marked suppression of hepatic glucose production during fasting. There was no evidence for constitutive autophosphorylation of the insulin or IGF-1 receptor, and no evidence for up-regulation of IGF-1 receptor.CONCLUSION: The precise pathophysiology of this novel case is still unclear.