Hussain K, Bodamer O A F, Cameron F J, Camacho-Hubner C, Soos M A, Jones J, Krywawych S, O'Rahilly S, Aynsley-Green A
London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust London and the Institute of Child Health, University College London, London, UK.
Horm Res. 2004;61(5):222-7. doi: 10.1159/000076553. Epub 2004 Feb 2.
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.
The precise pathophysiology of this novel case is still unclear.
婴幼儿期反复出现且持续存在的低酮血症、低脂血症性低血糖最常见的原因是婴儿高胰岛素血症。这种生化特征也可能由非胰岛细胞瘤低血糖症或循环胰岛素受体自身抗体引起。高胰岛素血症性低血糖症在贝克威思-维德曼综合征患儿中也可见到，通常为短暂性。
方法/结果：我们报告了一例患有半侧肥大以及严重持续性低酮血症、低脂血症性低胰岛素血症性低血糖的患儿的新病例。未发现“大”的前胰岛素样生长因子2形式或循环胰岛素受体抗体。葡萄糖和蛋白质同位素周转率研究显示，禁食期间肝脏葡萄糖生成受到显著抑制。没有证据表明胰岛素或胰岛素样生长因子-1受体存在组成型自磷酸化，也没有证据表明胰岛素样生长因子-1受体上调。
该新病例的确切病理生理学仍不清楚。
