摘要
Prader-Willi综合征是一种罕见的印迹遗传性疾病，主要表现为肌张力低下、婴儿期喂养困难、儿童期开始的过量饮食和进行性肥胖、性腺发育不良、成人期身材矮小、代谢综合征及认知行为障碍。国内外经验证实，重组人生长激素（rhGH）对于治疗Prader-Willi综合征疗效良好，为保证治疗质量，改善长期预后，需要关注多个方面的问题，包括rhGH治疗前的营养发育及内分泌代谢功能评估、开始rhGH治疗的年龄、rhGH的剂量、rhGH治疗中的不良反应监测、rhGH的耐受性、rhGH的治疗终点、rhGH的疗效评估、其他辅助治疗及知情同意等。
Prader - Willi syndrome is a rare genetic disorder characterized by hypotonia, poor feeding in infan- cy, hyperphagia with evolving obesity, hypogonadism, decreased adult height, and cognitive and behavioral disabilities. Recombinant human growth hormone （rhGH） has been used in treating Prader - Willi syndrome, and it has achieved good results. Several aspects still need to be concerned, including evaluation before rhGH treatment, age at treatment initiation, dosing, monitoring of potential side effects, tolerability, endpoint, response evaluation, use of adjunct thera- pies, and issues of consent.
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2016年第8期564-568,共5页
Chinese Journal of Applied Clinical Pediatrics
