Pinto Graziella, Cormier-Daire Valérie, Le Merrer Martine, Samara-Boustani Dinane, Baujat Geneviève, Fresneau Laurence, Viaud Magali, Souberbielle Jean Claude, Pineau Jean Claude, Polak Michel
Pediatric Endocrinology, Gynecology and Diabetes, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Horm Res Paediatr. 2014;82(6):355-63. doi: 10.1159/000364807. Epub 2014 Oct 15.
BACKGROUND/AIMS: Hypochondroplasia (HCH) is a skeletal dysplasia characterized by disproportionate short stature. The aims of the study are to evaluate efficacy and safety of recombinant human growth hormone (r-hGH) therapy in HCH children, when compared with a historical cohort of untreated HCH children.
Nineteen HCH patients with an initial height standard deviation score (SDS) ≤-2 and a mean age of 9.3 ± 3.1 years were treated with a mean r-hGH dose of 0.053 mg/kg/day over 3 years. Growth charts were derived from the historical cohort (n = 40).
Height gain in the treated population was +0.62 ± 0.81 SDS greater than in the general population, and +1.39 ± 0.9 SDS greater than in the historical untreated HCH cohort (mean gain of 7.4 ± 6.6 cm gain). A negative correlation between height gain and age at treatment initiation was reported (p = 0.04). There was no significant difference in response between patients with fibroblast growth factor receptor 3 mutations and those without. No treatment-related serious adverse events were reported.
r-hGH treatment is well tolerated and effective in improving growth in HCH patients, particularly when started early. The treatment effect varies greatly and must be evaluated for each patient during treatment to determine the value of continued therapy.
背景/目的：软骨发育不全（HCH）是一种以身材不成比例矮小为特征的骨骼发育异常。本研究的目的是评估重组人生长激素（r-hGH）治疗HCH儿童的疗效和安全性，并与未经治疗的HCH儿童历史队列进行比较。
19例初始身高标准差评分（SDS）≤-2且平均年龄为9.3±3.1岁的HCH患者接受了为期3年的r-hGH治疗，平均剂量为0.053mg/kg/天。生长图表来自历史队列（n = 40）。
治疗组的身高增长比一般人群高+0.62±0.81 SDS，比未经治疗的HCH历史队列高+1.39±0.9 SDS（平均增长7.4±6.6 cm）。据报道，身高增长与开始治疗时的年龄呈负相关（p = 0.04）。成纤维细胞生长因子受体3突变患者和未突变患者之间的反应无显著差异。未报告与治疗相关的严重不良事件。
r-hGH治疗耐受性良好，对改善HCH患者的生长有效，尤其是早期开始治疗时。治疗效果差异很大，治疗期间必须对每位患者进行评估，以确定继续治疗的价值。
