摘要
患儿 男,1岁6月龄,因"低热10个月余"就诊。临床表现为间断性发热,伴喂养困难、呕吐、易哭闹,基因检测发现半乳糖脑苷脂酶(GALC)基因复合杂合突变,即外显子5 c.452G>A(p.W151X,535)杂合突变和外显子16 c.1901T>C(p.L634S)杂合突变,进一步查白细胞中GALC活性显著降低,确诊为Krabbe病,并予异基因造血干细胞移植治疗成功。
作者
骆燕辉
秦茂权
任晓暾
王彬
闫岩
王凯
王天有
朱光华
Luo Yanhui;Qin Maoquan;Ren Xiaotun;Wang Bin;Yan Yan;Wang Kai;Wang Tianyou;Zhu Guanghua(Hematology Oncology Center,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing Key Laboratory of Pediatric Hematology Oncology,National Key Discipline of Pediatrics(Capital Medical University),Key Laboratory of Major Diseases in Children,Ministry of Education,Beijing 100045,China;Department of Neurology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2020年第5期420-422,共3页
Chinese Journal of Pediatrics
基金
儿童示范性新药临床评价技术平台建设(2017ZX09304029)。
