摘要
例1女,1岁7月龄,以眼睑及眶周浮肿为首发表现,逐渐进展至双下肢硬肿、少尿、呼吸困难、心力衰竭、心源性休克,抢救无效死亡;例2为例1胞妹,自出生后开始随访,7月龄出现间断眼睑及眶周浮肿,随访至1岁余,予低脂饮食后浮肿缓解,未见其他异常。首次发现与淋巴水肿相关的PIEZO1基因新变异位点c.5863C>T与c.5590C>T复合杂合变异。
作者
王叶青
苏畅
钱素云
郝婵娟
郭若兰
徐艳
Wang Yeqing;Su Chang;Qian Suyun;Hao Chanjuan;Guo Ruolan;Xu Yan(Pediatric Intensive Care Unit,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Department of Endocrinology,Genetics and Metabolism,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Genetics and Birth Defects Control Center,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing Key Laboratory for Genetics of Birth Defects,Beijing Pediatric Research Institute,Ministry of Education Key Laboratory of Major Diseases in Children,Beijing 100045,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2022年第11期1219-1221,共3页
Chinese Journal of Pediatrics
基金
国家临床重点专科建设(国卫办医函[2021]451号)
北京市重大疫情防治重点专科(京卫医[2021]135号)。
