Arch Dis Child. 2014 Feb;99(2):166-70. doi: 10.1136/archdischild-2013-303760. Epub 2013 Oct 25.
Prader Willi syndrome (PWS) is a genetic condition caused by loss of the paternal copy of a region of imprinted genes on chromosome 15. There is severe muscular hypotonia in the neonatal period, with the onset of hyperphagia and food-seeking behaviour in childhood. All individuals with PWS have developmental delay. Without careful control of food intake and the food environment, individuals with PWS become morbidly obese and are likely to die as young adults from the complications of obesity. The aims of growth hormone (GH) treatment in PWS are distinct from the use of GH in other conditions-although GH does increase final height in PWS, the main benefits of treatment are improved body composition and better exercise capacity, which can help with the aim of preventing obesity. GH trials in PWS have demonstrated improved muscle bulk, reduced fat mass and increased levels of physical activity. GH has also been demonstrated to improve attainment of developmental and cognitive milestones in children with PWS. GH treatment appears to change respiratory status in PWS, possibly because of growth of lymphoid tissue at the start of treatment. Respiratory assessment is recommended prior to, and just after starting GH treatment. Ideal age for starting GH is not clear, although there has been a trend towards starting at younger ages. It may be that GH treatment in childhood confers benefits into adult life. There are less data to support continuing GH treatment into adult life.
普拉德-威利综合征（PWS）是一种由 15 号染色体上印记基因区域的父源拷贝缺失引起的遗传疾病。新生儿期存在严重的肌肉张力减退，随后出现小儿期的贪食和寻食行为。所有 PWS 患者均存在发育迟缓。如果不仔细控制饮食和饮食环境，PWS 患者会变得病态肥胖，并可能因肥胖并发症而在年轻成人期死亡。PWS 中生长激素（GH）治疗的目的与其他情况下使用 GH 不同-尽管 GH 确实会增加 PWS 患者的最终身高，但治疗的主要益处是改善身体成分和更好的运动能力，这有助于预防肥胖。PWS 的 GH 试验已经证明了肌肉质量的增加、脂肪质量的减少和身体活动水平的提高。GH 还被证明可以改善 PWS 儿童在发育和认知里程碑方面的表现。GH 治疗似乎会改变 PWS 的呼吸状态，可能是因为在开始治疗时淋巴组织生长。建议在开始 GH 治疗之前和之后进行呼吸评估。开始 GH 治疗的理想年龄尚不清楚，尽管有向更年轻年龄开始治疗的趋势。可能是儿童时期的 GH 治疗会给成年生活带来益处。支持将 GH 治疗继续到成年生活的数据较少。
