中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (7): 752-755.DOI: 10.11852/zgetbjzz2019-1166

• 基础科研论著 • 上一篇    下一篇

Prader-Willi综合征的治疗进展

王欣, 曲书强   

  1. 哈尔滨医科大学附属第二医院儿内科,黑龙江 哈尔滨 150086
  • 收稿日期:2019-10-01 发布日期:2020-07-10 出版日期:2020-07-10
  • 通讯作者: 曲书强,E-mail:qsq1962@aliyun.com
  • 作者简介:王欣(1994-),女,黑龙江人,硕士研究生,主要研究方向为小儿呼吸、新生儿。

Advances on the treatment of Prader-Willi syndrome

WANG Xin, QU Shu-qiang   

  1. Department of Neonatal Pediatrics,the Second Affiliated Hospital,Harbin Medical University,Harbin,Heilongjiang 150086,China
  • Received:2019-10-01 Online:2020-07-10 Published:2020-07-10
  • Contact: QU Shu-qiang,E-mail:qsq1962@aliyun.com.

摘要: Prader-Willi综合征是由父源的15q11.2-13区域的印记基因缺陷所导致的复杂的多系统异常。其特征是内分泌、代谢、认知、行为和精神症状相结合,相关的呼吸障碍对患者的日常生活具有高度破坏性,也是最常见的死亡原因。患者为了获取食物可表现出强迫性行为,进而出现病态肥胖,这对社会功能和生活质量产生了极其有害的影响。因此,合理、有效的治疗在极大程度上可以改善患儿的预后。

关键词: Prader-Willi综合征, 肥胖, 睡眠障碍, 呼吸困难

Abstract: Prader-willi syndrome is a complex multisystem anomaly caused by imprinted genetic defects in the patent-derived 15q11.2-13 region,which is characterized by a combination of endocrine,metabolic,cognitive,behavioral and psychiatric symptoms.Associated respiratory disorders are highly disruptive to patients' daily lives and are the most common cause of death.Compulsive behavior in order to obtain food can lead to morbid obesity,which has extremely detrimental effects on social function and quality of life.Therefore,reasonable and effective treatment can greatly improve the prognosis of children.

Key words: Prader-Willi syndrome, obesity, dyssomnia, expiratory dyspnea, treatment

中图分类号: