患有CHDARGE综合征的矮小儿童：他们能从生长激素治疗中获益吗？

Short Children with CHARGE Syndrome: Do They Benefit from Growth Hormone Therapy?

作者信息

Dörr Helmuth G, Boguszewski Margaret, Dahlgren Jovanna, Dunger David, Geffner Mitchell E, Hokken-Koelega Anita C, Lindberg Anders, Polak Michel, Rooman Raoul

机构信息

Division of Pediatric Endocrinology, Department of Pediatrics, University of Erlangen, Erlangen, Germany.

出版信息

Horm Res Paediatr. 2015;84(1):49-53. doi: 10.1159/000382017. Epub 2015 May 29.

DOI:10.1159/000382017

PMID:26044035

Abstract

AIM

The aim of this study was to evaluate the response to recombinant growth hormone (GH) treatment in short children with CHARGE syndrome.

PATIENTS

We identified 51 children (28 boys and 23 girls) in KIGS (Pfizer International Growth Database). The median chronological age was 7.6 years at the start of GH therapy and 13.2 years at the latest visit. Evaluation for GH deficiency (n = 33) was based on the following: peak GH level 7.3 μg/l and IGF-I level -2.01 standard deviation score (SDS). Sixteen subjects (9 boys) were followed longitudinally for 2 years.

RESULTS

Birth length (median SDS, -0.47) and weight (-0.97) were slightly reduced. At the start of GH therapy, height was -3.6 SDS, BMI -0.7 SDS, and the GH dose was 0.26 mg/kg/week. At the latest visit after 2.7 years of GH therapy, height had increased to -2.2 SDS and BMI to -0.5 SDS. In the longitudinal group, height increased from -3.72 SDS at the start of GH therapy to -2.92 SDS after 1 year to -2.37 SDS after 2 years of therapy (start - 2 years: p < 0.05), height velocity increased from -1.69 to 2.98 to 0.95 SDS, and BMI and GH dose (mg/kg/week) remained almost unchanged.

CONCLUSIONS

Our data show a positive effect of conventional doses of GH on short-term growth velocity for the longitudinal as well as for the total group, without any safety issues.

摘要

目的

本研究旨在评估生长激素（GH）治疗对患有CHARGE综合征的矮小儿童的反应。

患者

我们在辉瑞国际生长数据库（KIGS）中确定了51名儿童（28名男孩和23名女孩）。开始GH治疗时的中位实际年龄为7.6岁，最近一次随访时为13.2岁。对生长激素缺乏症（n = 33）的评估基于以下标准：生长激素峰值水平＜7.3μg/l且胰岛素样生长因子-I（IGF-I）水平＜-2.01标准差评分（SDS）。16名受试者（9名男孩）进行了为期2年的纵向随访。

结果

出生时身长（中位SDS，-0.47）和体重（-0.97）略有降低。开始GH治疗时，身高为-3.6 SDS，体重指数（BMI）为-0.7 SDS，GH剂量为0.26 mg/kg/周。在GH治疗2.7年后的最近一次随访中，身高增加到-2.2 SDS，BMI增加到-0.5 SDS。在纵向随访组中，身高从GH治疗开始时的-3.72 SDS增加到治疗1年后的-2.92 SDS，治疗2年后增加到-2.37 SDS（开始至2年：p＜0.05），身高生长速度从-1.69增加到2.98再到0.95 SDS，BMI和GH剂量（mg/kg/周）几乎保持不变。