发育性髋关节发育不良-新生儿糖尿病-白内障  

Developmental dysplasia of the hip-neonatal diabetes mellitus-cataract

作　　者：范逸儿 章振林[1] FAN Yi-er;ZHANG Zhen-lin(Department of Osteoporosis and Bone Disease,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University,Shanghai Clinical Research Center of Bone Disease,Shanghai 200233,China)

机构地区：[1]上海交通大学附属第六人民医院骨质疏松和骨病专科,上海市骨疾病临床研究中心,上海200233

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2025年第1期94-100,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：上海市内分泌代谢疾病研究中心项目(2022ZZ01002);上海市第六人民医院高层次人才支持培育计划项目(ynljzc202408)。

摘　　要：发育性髋关节发育不良是临床常见的先天性畸形之一,合并多发性骨骺发育不良、骨质疏松、白内障、发育迟缓等多系统表现,尤其是出现始于新生儿期的糖尿病时,应尽早行基因检测明确诊断。本文报道1例女性患儿,经过详细的病史采集、辅助检查、基因检测,确诊EIF2AK3基因纯合变异致Wolcott-Rallison综合征(Wolcott-Rallison syndrome,WRS)。本文旨在阐述WRS的临床特征和诊疗过程,以提高对该疾病的认识。Developmental dysplasia of the hip is one of the most common congenital anomalies encountered in clinical practice.When it is accompanied by multi-systemic symptoms such as multiple epiphyseal dysplasia,osteoporosis,cataracts,developmental delays,and particularly neonatal diabetes mellitus,early genetic testing is imperative for a definitive diagnosis.In this study,a female pediatric patient was reported who was diagnosed with the rare Wolcott-Rallison syndrome(WRS)due to a homozygous mutation in the EIF2AK3 gene after thorough medical history taking,auxiliary examinations and genetic testing.The purpose of this article was to elucidate the clinical features and the diagnostic and therapeutic process of WRS,thereby enhancing the understanding of this condition.

关 键 词：发育性髋关节发育不良 新生儿糖尿病 Wolcott-Rallison综合征 EIF2AK3基因 

分 类 号：R587.1[医药卫生—内分泌]