骆宁^1,,
刘畅^1,,,
彭丽华²,
李甘³,
谭菊芳⁴
1. 郴州市第一人民医院 内分泌科，湖南 郴州 423000
2. 郴州市第四人民医院 检验科，湖南 郴州 423000
3. 郴州市第一人民医院 营养科，湖南 郴州 423000
4. 郴州市第一人民医院 罕见病科，湖南 郴州 423000

基金项目: 郴州市科技局项目（lcy12021035）


详细信息 作者简介: 骆 宁（1986-），女，副主任医师。E-mail：luoninglvning@126.com





通讯作者: 刘 畅，主任医师。E-mail：835478729@qq.com 中图分类号: R584.2


摘要:目的分析Prader-Willi综合征（Prader-Willi syndrome，PWS）不同时期的临床特点，以提高临床医生对PWS的认知。方法收集2019年1月至2022年2月在郴州市第一人民医院内分泌科收治的11例经过基因诊断为PWS患儿的临床资料，其中男性7例，女性4例；于我院初次就诊的年龄为1 d～15岁。其中新生儿期 6例，幼儿期1例，学龄期3例，青春期1例。分析11例患儿的临床表现、超声特点及诊治过程，总结其临床特点。结果11例PWS患儿中，10例在新生儿时期出现肌张力减退、喂养困难，所有男孩出生时都有隐睾（其中5例双侧隐睾，2例右侧隐睾）。5例患儿出生时出现动脉导管未闭合并卵圆孔未闭，3例仅为卵圆孔未闭。1例青春期患儿出现青春发育延迟合并糖尿病。11例PWS均经过基因检测确诊，1例为母源性单亲二倍体，其余10例为父源缺失型。3例患儿使用生长激素治疗，3例因反复发热暂未启动生长激素治疗，1例予以司美格鲁肽联合达格列净降糖治疗，3例因经济条件未能治疗，1例行隐睾手术，1例已死亡。结论新生儿出现张力减退、喂养困难，特别是合并隐睾，或自幼肥胖、身材矮小，伴糖尿病、性腺发育异常的患儿，需高度怀疑PWS诊断。新生儿期心脏缺陷也是其重要特征。确诊后应尽早使用生长激素治疗，长效GLP-1受体激动剂和SGLT2抑制剂可能成为PWS合并糖尿病治疗的一种新选择。
关键词: Prader-Willi综合征/
糖尿病/
GLP-1受体激动剂/
SGLT2抑制剂


Abstract:ObjectiveTo enhance the early recognition of Prader-Willi syndrome (PWS) by analyzing the clinical characteristics and misdiagnosis of PWS during different stages.MethodsThe clinical data of 11 children who were genetically diagnosed with PWS in the Department of Endocrinology, the First People's Hospital of Chenzhou from January 2019 to February 2022 were collected, including 7 males and 4 females. The age of first visit in our hospital ranged from 1 day to 15 years. There were 6 cases in neonatal period, 1 case in early childhood, 3 cases in school age, and 1 case in adolescence. The clinical manifestations, ultrasound features, diagnosis and treatment of the 11 patients were analyzed, and the clinical characteristics were summarized.ResultsAmong the 11 PWS patients, 1 was maternal diploid and the other 10 had paternal deletion. Ten patients manifested hypotonia and feeding difficulties during neonatal period, and all males were born with cryptorchidism (5 with bilateral cryptorchidism and 2 with right cryptorchidism). Five patients were born with both patent ductus arteriosus and patent foramen ovale, and three patients were born with patent foramen ovale only. One adolescent patient had delayed appearance of secondary sex characteristics and diabetes mellitus. Three patients were treated with growth hormone, 3 patients were not treated with growth hormone because of recurrent fever, 1 patient was treated with semaglutide combined with dapagliflozin, 3 patients were not treated due to economic conditions, 1 patient underwent cryptorchidism surgery, and 1 patient died.ConclusionPWS should be highly suspected in neonates with hypotonia and feeding difficulties, especially for those with cryptorchidism, obesity, short stature, diabetes and gonadal dysplasia. Heart defects in neonatal period are also important features. After diagnosis, growth hormone therapy should be used as soon as possible, long-acting GLP-1 agonists and SGLT2 inhibitors may be new options for the treatment of diabetes in PWS.
Keywords:Prader-Willi syndrome/
diabetes mellitus/
GLP-1 receptor agonists/
SGLT2 inhibitors

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