Li Chuan, Xie Bobo, Shen Yiping, Luo Feihong
Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):318-323. doi: 10.3760/cma.j.issn.1003-9406.2020.03.016.
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 are 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.
普拉德-威利综合征（PWS）是已知的由印记缺陷引起的首个多系统遗传性疾病。PWS的临床表现随年龄而异。在产前阶段，胎动减少很常见。新生儿期的主要临床表现包括肌张力低下、哭声微弱、吸吮无力和喂养困难。婴儿期可见生长发育迟缓以及语言和运动发育延迟。儿童期会出现身材矮小、手脚小、认知缺陷。在青春期，显著的生长发育迟缓、肥胖、性腺发育不全、行为异常和学习困难是主要问题。食欲亢进导致的病态肥胖是影响预后的主要因素。早期诊断和干预对提高生活质量、预防严重并发症及延长生存期具有重要意义。本指南涵盖了PWS的临床表现、发育过程、发病机制、分子诊断和遗传咨询，旨在为临床医生对该疾病的早期识别、恰当干预和遗传咨询提供参考。
