Department of Pediatrics, Federico II University, Naples, Italy.
J Pediatr. 2010 Apr;156(4):663-70.e1. doi: 10.1016/j.jpeds.2009.10.032. Epub 2009 Dec 21.
To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1).
This was a prospective, case-control study. Ten patients with GSD1a and 7 patients with GSD1b who were given dietary treatment and 34 sex-, age-, body mass index-, and pubertal stage-matched control subjects entered the study. Auxological parameters were correlated with circulating GH, either at basal or after growth hormone releasing hormone plus arginine test, insulin-like growth factors (IGF-I and IGF-II), and anti-pituitary antibodies (APA).
Short stature was detected in 10.0% of patients with GSD1a, 42.9% of patients with GSD1b (P = .02), and none of the control subjects. Serum IGF-I levels were lower in patients with GSD1b (P = .0001). An impaired GH secretion was found in 40% of patients with GSD1a (P = .008), 57.1% of patients with GSD1b (P = .006), and none of the control subjects. Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency. The prevalence of APA was significantly higher in patients with GSD1b than in patients with GSD1a (P = .02) and control subjects (P = .03). The GH response to the provocative test inversely correlated with the presence of APA (P = .003). Compared with levels in control subjects, serum IGF-II and insulin levels were higher in both groups of patients, in whom IGF-II levels directly correlated with height SD scores (P = .003).
Patients with GSD1a have an impaired GH secretion associated with reference range serum IGF-I levels and normal stature, whereas in patients with GSD1b, the impaired GH secretion, probably because of the presence of APA, was associated with reduced IGF-I levels and increased prevalence of short stature. The increased IGF-II levels, probably caused by increased insulin levels, in patients with GSD1 are presumably responsible for the improved growth pattern observed in patients receiving strict dietary treatment.
研究 1 型糖原贮积病（GSD1）患者的生长激素（GH）-胰岛素样生长因子（IGF）系统。
这是一项前瞻性病例对照研究。10 例 GSD1a 患者和 7 例 GSD1b 患者接受饮食治疗，34 名性别、年龄、体重指数和青春期阶段匹配的对照者纳入研究。将生长激素、生长激素释放激素加精氨酸试验后的循环 GH、胰岛素样生长因子（IGF-I 和 IGF-II）和抗垂体抗体（APA）与人体测量参数相关联。
GSD1a 患者中发现身材矮小 10.0%，GSD1b 患者中发现身材矮小 42.9%（P =.02），对照组均未发现身材矮小。GSD1b 患者血清 IGF-I 水平较低（P =.0001）。发现 GSD1a 患者中 GH 分泌受损 40%（P =.008），GSD1b 患者中 GH 分泌受损 57.1%（P =.006），对照组均未发现 GH 分泌受损。GSD1b 中 3 例 GH 缺乏的患者出现身材矮小。GSD1b 患者 APA 的患病率明显高于 GSD1a 患者（P =.02）和对照组（P =.03）。GH 对激发试验的反应与 APA 的存在呈负相关（P =.003）。与对照组相比，两组患者的血清 IGF-II 和胰岛素水平均升高，其中 IGF-II 水平与身高标准差评分直接相关（P =.003）。
GSD1a 患者 GH 分泌受损，伴有参考范围内的血清 IGF-I 水平和正常身高，而 GSD1b 患者 GH 分泌受损，可能是由于 APA 的存在，伴有 IGF-I 水平降低和身材矮小患病率增加。GSD1 患者中 IGF-II 水平升高，可能是由于胰岛素水平升高所致，这可能是接受严格饮食治疗的患者生长模式改善的原因。
