Grugni Graziano, Marzullo Paolo
Division of Auxology, I.R.C.C.S. Istituto Auxologico Italiano, Ospedale S. Giuseppe, Verbania, 28921, Italy.
Division of General Medicine, I.R.C.C.S. Istituto Auxologico Italiano, Ospedale S. Giuseppe, Verbania, 28921, Italy; Department of Translational Medicine, Università del Piemonte Orientale, Novara, 28100, Italy.
Best Pract Res Clin Endocrinol Metab. 2016 Dec;30(6):785-794. doi: 10.1016/j.beem.2016.11.003. Epub 2016 Nov 9.
Prader-Willi syndrome (PWS) results from under-expression of the paternally-derived chromosomal region 15q11-13. Growth failure is a recognized feature of PWS, and both quantitative and qualitative defects of the GH/IGF-I axis revealing GH deficiency (GHD) have been demonstrated in most children with PWS. In PWS adults, criteria for GHD are biochemically fulfilled in 8-38% of the studied cohorts. Published data support benefits of early institution of GH therapy (GHT) in PWS children, with positive effects on statural growth, body composition, metabolic homeostasis, and neurocognitive function. Like in pediatric PWS, GHT also yields beneficial effects on lean and body fat, exercise capacity, and quality of life of PWS adults. Although GHT has been generally administered safely in PWS children and adults, careful surveillance of risks is mandatory during prolonged GH replacement for all PWS individuals.
普拉德-威利综合征（PWS）是由父源染色体区域15q11-13表达不足引起的。生长发育迟缓是PWS的一个公认特征，大多数PWS儿童都存在生长激素/胰岛素样生长因子-I轴的定量和定性缺陷，提示生长激素缺乏（GHD）。在PWS成人中，8%-38%的研究队列在生化方面符合GHD标准。已发表的数据支持早期进行生长激素治疗（GHT）对PWS儿童有益，对身高增长、身体成分、代谢稳态和神经认知功能有积极影响。与儿科PWS一样，GHT对PWS成人的瘦体重和体脂、运动能力及生活质量也有有益影响。尽管GHT在PWS儿童和成人中一般使用安全，但在所有PWS个体长期进行生长激素替代治疗期间，必须仔细监测风险。
