Prader-Willi综合征的临床实践指南  

Clinical practice guidelines for Prader-Willi syndrome

作　　者：无 李川[2] 谢波波[2] 沈亦平[2,3,4] 罗飞宏[5] 无;Li Chuan;Xie Bobo;Shen Yiping;Luo Feihong(Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详)

机构地区：[1]中华医学会医学遗传学分会遗传病临床实践指南撰写组 [2]广西壮族自治区妇幼保健院遗传代谢中心实验室 [3]上海交通大学医学院附属上海儿童医学中心内分泌代谢科、医学遗传科 [4]美国波士顿儿童医院遗传及基因组部 [5]复旦大学附属儿科医院内分泌遗传代谢科

出　　处：《中华医学遗传学杂志》2020年第3期318-323,共6页Chinese Journal of Medical Genetics

摘　　要：Prader-Willi综合征(Prader-Willi syndrome,PWS)是首个被阐明的以基因组印记异常为致病机理的多系统遗传病。PWS的临床表现因年龄而异。胎儿期表现为胎动少;新生儿期主要表现为肌张力低下、哭声弱、吸吮无力、喂养困难等;婴幼儿期表现为生长发育及语言运动发育迟缓;儿童期表现为矮胖、小手足和认知功能障碍等;青春期以身高明显不足、肥胖、性腺发育不良、异常行为、学习困难等为主要特征。患者因饮食过度导致的病态肥胖是影响预后的主要因素。早期诊断、早期干预,对于改善其生活质量、预防严重的并发症和延长寿命具有重要的意义。本指南主要介绍PWS的临床症状、疾病发展过程、发病机制、分子诊断以及遗传咨询等内容,为临床医师对该病进行早期识别、合理干预和遗传咨询提供参考。Prader-Willi syndrome(PWS)is the first multi-systemic genetic disorder known to be caused by imprinting defect.The clinical manifestations of PWS vary with age.At the prenatal stage*decreased fetal movements arc frequent.The major clinical manifestations during neonatal period include hypotonia,weak cry,poor suck and feeding difficulties.Growth retardation and delayed language and motor development are observed during infancy.Short stature,small hands and feet,cognitive deficiency are noticed in the childhood.At adolescence,prominent growth retardation,obesity,gonadal dysplasia,abnormal behavior and learning difficulties are the major issues.Morbid obesity caused by insatiable appetite is the major factor for prognosis.Early diagnosis and intervention play a significance role in improving the quality of life,preventing serious complications and prolonging survival.This guideline covers the clinical manifestations,developmental process,pathogenesis,molecular diagnosis and genetic counseling of PWS,with an aim to provide reference for clinicians for early identification,proper intervention and genetic counseling for this disease.

关 键 词：PRADER-WILLI综合征 印记遗传病 实践指南 

分 类 号：R72[医药卫生—儿科]