摘要
Prader—Willi综合征(PWS)是导致人类肥胖的最常见遗传性综合征之一,但其发病率低,早期临床特征不典型,极易被漏诊误诊。本文利用全基因组测序技术,分析该PWS患者基因型以明确诊断。并结合患者病历资料及相关文献,阐述PWS典型临床表现和最新治疗进展,以期引起临床医生的重视,为早期诊断、综合治疗提供支持。
Prader-Willi syndrome（PWS） is one of the most common hereditary syndromes causing human obesity.PWS is liable to be misdiagnosed due to its low incidence and atypical early clinical features.A case of PWS was definitely diagnosed by incorporating medical records,literature review and whole genome sequencing.We described the typical clinical manifestations and recent research progress in order to arouse the attention of clinicians and provide support for the early diagnosis and comprehensive treatment.
出处
《中国糖尿病杂志》
CAS
CSCD
北大核心
2016年第3期271-274,共4页
Chinese Journal of Diabetes
基金
国家自然科学基金(81173622)
