LPL基因变异导致的婴儿家族性高乳糜微粒血症合并肾脏错构瘤1例报告

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关键词:脂蛋白脂酶缺乏症Ⅰ型; 高甘油三酯血症; 肾脏错构瘤
基金项目:国家重点研发计划(2021YFC 2700800)
Infantile familial chylomicronemia syndrome caused by LPL gene variants coexisting with renal hamartoma: A case report
CHEN Xintao1a,2, FANG Weiyuan1a, GONG Xiaoyan1b, LIN Qiong2, LU Yi1a. (1. a.The Center for Pediatric Liver Diseases, b. Department of Clinical Nutrition, Children’s Hospital of Fudan University, Shanghai 201102, China; 2. Department of Gastroenterology, Wuxi Children’s Hospital, Wuxi, Jiangsu 214023, China)
Corresponding author:
LU Yi, luyi@fudan.edu.cn (ORCID:0000-0002-3311-4501)
Key words:
Hyperlipoproteinemia Type I; Hypertriglyceridemia; Renal Hamartoma
Research funding:National Key Research and Development Program of China(2021YFC 2700800)
1 病例资料
患儿男性,4月龄+20天,因“发现血脂异常8天”于2021年3月收治复旦大学附属儿科医院肝病科。(剩余10371字)