摘要
回顾性分析南京医科大学附属儿童医院新生儿医疗中心收治的1例Kleefstra综合征并SLC2A1基因突变新生儿的临床资料,分析其实验室检查、基因特点及诊治过程,本例为国内外首次报道Kleefstra综合征并SLC2A1基因突变的新生儿病例,表现为早发型癫痫,基因分析是目前明确诊断最可靠的方法。
The clinical data of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation in the Department of Newborn Infants,Children′s Hospital of Nanjing Medical University were retrospectively analyzed.The laboratory examination,genetic characteristics,diagnosis and treatment progress were analyzed.This is the first report of a newborn with Kleefstra syndrome combined with SLC2A1 gene mutation,presenting with an early-onset epilepsy.Gene analysis is the most reliable method to make a definitive diagnosis.
作者
袁子钧
曹兆兰
卢刻羽
郑必霞
邱洁
Yuan Zijun;Cao Zhaolan;Lu Keyu;Zheng Bixia;Qiu Jie(Department of Newborn Infants,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Nanjing Key Laboratory of Pediatrics,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2021年第13期1027-1029,共3页
Chinese Journal of Applied Clinical Pediatrics
基金
国家自然科学基金面上项目(81671500)
江苏省临床医学科技专项(BL2012018)
江苏省第十四批"六大人才高峰"高层次人才(WSN-157)
"十三五"南京市卫生青年人才工程(QRX17076)。
