Prader-Willi综合征的饮食和营养干预  

Dietary and nutritional intervention of Prader-Willi syndrome

作　　者：孙芳[1] 张知新[2] Sun Fang;Zhang Zhixin(Department of Pediatrics,China Japan Friendship Hospital,Beijing 100029,China;Department of International,China Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]中日友好医院儿科,北京100029 [2]中日友好医院国际医疗部,北京100029

出　　处：《中华实用儿科临床杂志》2020年第9期677-680,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家重点研发计划项目(2019YFC1005100)。

摘　　要：Prader-Willi综合征是一种可治疗的罕见病,又称肌张力低下-智能障碍-性腺发育滞后-肥胖综合征,是最早被证实的基因组印记遗传疾病,多由于父系15号染色体缺陷所致。Prader-Willi综合征患者的临床表现随着年龄增长呈现连续性变化,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等多系统损害。我国对于Prader-Willi综合征的临床诊断评分和分子遗传诊断方法与国外标准一致,需要个体化的综合治疗,特别是针对内分泌及代谢紊乱进行治疗。饮食治疗和营养干预是Prader-Willi综合征综合治疗中的重要组成部分,贯穿患者一生,饮食和营养干预可改善Prader-Willi综合征患者的代谢状况,有效控制Prader-Willi综合征患者肥胖及并发症,改善预后,提高生活质量,不仅经济方便,而且可操作性强。现着重介绍Prader-Willi综合征患者不同年龄阶段的各个营养分期,各期相应的饮食和营养治疗的原则及可行的方法,以及持续不断的营养监测项目。Prader-Willi syndrome is a rare and treatable disease,that is also known as hypotonia-dysgnosia-gonadal dysplasia-obesity syndrome.It is the first recognized imprinted condition due to parental chromosome 15 defect.The clinical symptoms of patients with Prader-Willi syndrome change continuously with age because of multiple organ damages,mainly including hypotonia,feeding difficulty in infancy,overeating and progressive obesity from early childhood,gonadal dysplasia,short stature in adulthood,metabolic syndrome and cognitive behavioral disorders,etc.There are consensus clinical diagnostic criteria and molecular genetics diagnostic methods in domestic and international research.However,the individualized endocrine and metabolic treatment are necessary for Prader-Willi syndrome.Life-long dietary treatment and nutritional intervention are very important to comprehensive treatment of patients with Prader-Willi syndrome,which are cheap and convenient to improve their metabolic condition.The dietary and nutritional intervention can effectively reduce obesity and complications,improve the prognosis and the quality of the life of the patients with Prader-Willi syndrome.Now,the age-related nutritional phases in the patients with Prader-Willi syndrome,the principle and applicable approaches of dietary and nutritional intervention for each phase,as well as long-term follow-up of nutritional status were discussed.

关 键 词：PRADER-WILLI综合征 肥胖 饮食治疗 营养干预 

分 类 号：R725.9[医药卫生—儿科]