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Prader-Willi综合征(PWS)是因来自父亲的15q11.2-q13区域内基因表达异常所致的一种累及全身多系统的遗传病,婴儿期可有肌张力低、外阴发育不全或隐睾、喂养困难,后出现食欲亢进、肥胖、行为及认知异常和智力、运动发育落后,青春期发育迟缓或不全,部分患者发生糖尿病,临床易漏诊,且尚缺乏特异性治疗手段。本文报道1例应用艾塞那肽治疗成年PWS伴糖尿病患者的临床疗效及安全性,讨论其临床特点及诊治要点,旨在提高对该病的认识并改善预后。
Prader-Willi syndrome (PWS) is a genetic disorder involving the whole body and multiple systems due to abnormal gene expression in the 15q11.2-q13 region of the father. Infants may have hypotonia, vulvar hypoplasia or cryptorchidism , Difficulty in feeding, appetite hypersensitivity, obesity, behavioral and cognitive abnormalities and intelligence, backward motor development, adolescent growth retardation or incomplete, some patients with diabetes, clinical misdiagnosis, and the lack of specific treatment. This article reports the clinical efficacy and safety of exenatide in the treatment of adult patients with PWS and diabetes mellitus. The clinical features and the main points of diagnosis and treatment were discussed in order to improve the understanding of the disease and improve the prognosis.