下丘脑综合征相关临床表现与早发性肥胖基因的相关性研究  

Study on the Correlation between Clinical Manifestations of Hypothalamic Syndrome and Genes of Early-Onset Obesity

作　　者：熊玮 刘德云[1] 

机构地区：[1]安徽医科大学第二附属医院儿科,安徽 合肥

出　　处：《临床个性化医学》2025年第1期279-285,共7页Journal of Clinical Personalized Medicine

摘　　要：目的:探究在早发性肥胖患儿中,基因突变与下丘脑综合征相关临床表现是否存在统计学相关性;方法:收集2022年1月到2022年10月安徽医科大学第二附属医院儿科诊断早发性肥胖患儿资料,在征求家长同意后,共有89名符合纳入标准的患儿接受全外显子基因测序(WES)。根据是否存在基因突变将患儿进行分组,将两组中分别有贪食、代谢障碍、睡眠障碍、内分泌异常、神经精神障碍等临床表现的人数进行统计,探究两组之间各临床表现是否存在显著统计学差异。结果:在30个个体中发现了致病变异。两组之间贪食及智力障碍的人数p值小于0.05,余临床表现p值均大于0.05。结论:早发性肥胖患儿中33.7%的患儿存在基因突变。其中,基因阳性组中,贪食及智力障碍发生率明显高于基因阴性组,且存在统计学差异。Objective: To explore whether there was statistical correlation between gene mutation and clinical manifestations of hypothalamic syndrome in children with early-onset obesity. Methods: Data of children with early-onset obesity diagnosed in the Department of Pediatrics of the Second Affiliated Hospital of Anhui Medical University from January 2022 to October 2022 were collected. After seeking parental consent, a total of 89 children who met the inclusion criteria received whole exon gene sequencing (WES). The children were divided into groups according to whether there were gene mutations, and the number of patients with bulimia, metabolic disorders, sleep disorders, endocrine abnormalities, neuropsychiatric disorders and other clinical manifestations in the two groups were counted to explore whether there were statistically significant differences in clinical manifestations between the two groups. Results: Pathogenic variants were found in 30 individuals. Between the two groups, the number of bulimia and intellectual disability p value was less than 0.05, and the remaining clinical manifestations p value was greater tha

关 键 词：下丘脑综合征 早发性肥胖 基因突变 单基因肥胖 

分 类 号：R73[医药卫生—肿瘤]