【提要】 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。

【关键词】Prader-Willi综合症，糖尿病，NPHP1基因

Prader-Willi syndrome with NPHP1 gene duplication mutation in children：A case report and literature review 

WANG Rui-feng, XU Yi-xin, Du Hong. Department of Endocrinology,Nanjing General Hospital of Nanjing Military Command, Nanjing 210002, China

【Summary】 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.

【Key words】 Prader - Willi syndrome； Diabetes mellitus；NPHP1 gene