Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Pediatr Diabetes. 2018 Mar;19(2):259-264. doi: 10.1111/pedi.12548. Epub 2017 Jun 9.
To define the ranges of biochemical markers during hypoglycemia for the diagnosis of congenital hyperinsulinism (CHI), using high sensitivity insulin assays.
A total of 298 patients with CHI and 58 control patients with non-hyperinsulinemic hypoglycemia, who were diagnosed after 2007.
The levels of biochemical markers (glucose, insulin, β-hydroxybutyrate [BHB], free fatty acids [FFA], lactate, ammonia) at the time of hypoglycemia were analyzed along with the maximal glucose infusion rate (GIR) to maintain euglycemia and clinical outcomes.
Median levels of blood glucose in patients with CHI and in controls were 30 and 46 mg/dL, while insulin levels were 9.90 and undetectable (<.5) μU/mL, respectively. Similarly, median levels of BHB were 17.5 and 3745 µmol/L, and those of FFA were 270.5 and 2660 µmol/L, respectively. For patients after 5 months, cutoffs of insulin >1.25 μU/mL, BHB < 2000 µmol/L, and FFA < 1248 µmol/L predicted CHI with sensitivities of 97.5, 96.2, and 95.2% and specificities of 84.2, 89.3, and 92.3%, respectively. Maximal GIR in the CHI groups tended to decrease with age. In addition, decreased gestational age, low birth weight, and elevated lactate at hypoglycemia were significantly more common in patients who were off treatment within 100 days without pancreatectomy.
After introduction of high-sensitive assays, the diagnostic value of insulin was improved, allowing for more efficient cutoffs to be set for diagnosis of CHI. Premature birth, low birth weight and elevated lactate might be helpful in predicting early remission of hypoglycemia.
使用高敏胰岛素检测方法，定义低血糖期间生化标志物的范围，以诊断先天性高胰岛素血症（CHI）。
2007 年后诊断的 298 例 CHI 患者和 58 例非高胰岛素血症性低血糖患者。
分析低血糖时生化标志物（血糖、胰岛素、β-羟丁酸[BHB]、游离脂肪酸[FFA]、乳酸、氨）的水平，以及维持血糖正常的最大葡萄糖输注率（GIR）和临床结果。
CHI 患者和对照组的血糖中位数分别为 30 和 46mg/dL，胰岛素中位数分别为 9.90 和无法检出（<0.5）μU/mL。同样，BHB 的中位数分别为 17.5 和 3745μmol/L，FFA 的中位数分别为 270.5 和 2660μmol/L。对于 5 个月后的患者，胰岛素>1.25μU/mL、BHB<2000μmol/L 和 FFA<1248μmol/L 的截点预测 CHI 的敏感度分别为 97.5%、96.2%和 95.2%，特异度分别为 84.2%、89.3%和 92.3%。CHI 组的最大 GIR 随着年龄的增长而降低。此外，在未接受胰腺切除术且在 100 天内停止治疗的患者中，出生胎龄较低、出生体重较低和低血糖时乳酸升高的情况更为常见。
在引入高敏检测方法后，胰岛素的诊断价值得到了提高，可以为 CHI 的诊断设定更有效的截点。早产、低出生体重和低血糖时乳酸升高可能有助于预测低血糖的早期缓解。
