Zhou Qiong, Chao Yun-Qi, Dai Yang-Li, Gao Ying, Shen Zheng, Dong Guan-Ping, Zou Chao-Chun
Department of Endocrinology and Metabolism, Hangzhou Children's Hospital, Hangzhou, Zhejiang, 310014, China.
Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Hangzhou, Zhejiang, 310052, China.
BMC Pediatr. 2024 Oct 1;24(1):627. doi: 10.1186/s12887-024-05109-y.
Prader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how different PWS genotypes influence the outcome of rhGH treatment in children with PWS.
A review was conducted on 146 Chinese children with PWS, genetically classified and monitored from 2017 to 2022. Unaltered and modified generalized estimating equations (GEE) were employed to examine the long-term patterns in primary outcomes (growth metrics) and secondary outcomes (glucose metabolism metrics and insulin-like growth factor-1 (IGF-1)) during rhGH therapy. The study also evaluated the prevalence of hypothyroidism, hip dysplasia, and scoliosis before and after rhGH treatment.
Children with PWS experienced an increase in height/length standard deviation scores (SDS) following rhGH administration. The impact of rhGH therapy on growth measurements was similar in both the deletion and maternal uniparental diploidy (mUPD) cohorts. Nevertheless, the deletion group was more prone to insulin resistance (IR) compared to the mUPD group. No significant variations in growth metrics were noted between the two groups (P > 0.05). At year 2.25, the mUPD group showed a reduction in fasting insulin (FINS) levels of 2.14 uIU/ml (95% CI, -4.26, -0.02; P = 0.048) and a decrease in homeostasis model assessment of insulin resistance (HOMA-IR) of 0.85 (95% CI, -1.52, -0.17; P = 0.014) compared to the deletion group. Furthermore, there was a decrease in the IGF standard deviation scores (SDS) by 2.84 (95% CI, -4.84, -0.84; P = 0.005) in the mUPD group during the second year. The frequency of hip dysplasia was higher in the mUPD group compared to the deletion group (P < 0.05).
rhGH treatment effectively increased height/length SDS in children with PWS, with similar effects observed in both deletion and mUPD genotypes. Children with mUPD genetype receiving rhGH treatment may experience enhanced therapeutic effects in managing PWS.
普拉德-威利综合征（PWS）是一种罕见的多系统遗传性疾病。重组人生长激素（rhGH）治疗被广泛认为是PWS的主要治疗方法。本研究旨在探讨不同的PWS基因型如何影响PWS患儿rhGH治疗的效果。
对2017年至2022年期间进行基因分类和监测的146名中国PWS患儿进行了一项综述。采用未改变和改良的广义估计方程（GEE）来研究rhGH治疗期间主要结局（生长指标）和次要结局（糖代谢指标和胰岛素样生长因子-1（IGF-1））的长期模式。该研究还评估了rhGH治疗前后甲状腺功能减退、髋关节发育不良和脊柱侧弯的患病率。
PWS患儿在接受rhGH治疗后身高/身长标准差评分（SDS）有所增加。rhGH治疗对生长测量的影响在缺失型和母源单亲二倍体（mUPD）队列中相似。然而，与mUPD组相比，缺失组更容易出现胰岛素抵抗（IR）。两组之间的生长指标没有显著差异（P>0.05）。在2.25年时，与缺失组相比，mUPD组的空腹胰岛素（FINS）水平降低了2.14 uIU/ml（95%CI，-4.26，-0.02；P=0.048），胰岛素抵抗稳态模型评估（HOMA-IR）降低了0.85（95%CI，-1.52，-0.17；P=0.014）。此外，在第二年，mUPD组的IGF标准差评分（SDS）降低了2.84（95%CI，-4.84，-0.84；P=0.005）。mUPD组髋关节发育不良的发生率高于缺失组（P<0.05）。
rhGH治疗有效地提高了PWS患儿的身高/身长SDS，在缺失型和mUPD基因型中观察到相似的效果。接受rhGH治疗的mUPD基因型患儿在管理PWS方面可能会有更好的治疗效果。
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