新发SPTB基因突变致遗传性球形红细胞增多症合并肝内胆汁淤积一例  

Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case

作　　者：张远达[1] 左娜颖 张思思[1] 董青伟[1] 张少辉[1] 马蕾[1] 伏利兵[2] 丁召路 Zhang Yuanda;Zuo Naying;Zhang Sisi;Dong Qingwei;Zhang Shaohui;Ma Lei;Fu Libing;Ding Zhaolu(Department of Gastroenterology,Baoding Children′s Hospital,Baoding Key Laboratory for Clinical Study on Respiratory and Digestive Diseases in Children,Baoding 071000,China;Department of Pathology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Department of Pediatry,Beijing United Family Hospital,Beijing 100015,China)

机构地区：[1]保定市儿童医院消化内科保定市儿童呼吸消化疾病临床研究重点实验室,071000 [2]国家儿童医学中心首都医科大学附属北京儿童医院病理科,100045 [3]北京和睦家医院儿科,100015

出　　处：《中华儿科杂志》2019年第11期893-895,共3页Chinese Journal of Pediatrics

摘　　要：1例主诉为"皮肤发黄6个月余加重3 d"的患儿,综合其临床症状、实验室检查及肝脏病理结果,并完善基因测序示SPTB基因移码突变:c.1791delG,为新发突变。诊断为遗传性球形红细胞增多症。以胆汁淤积起病的遗传性球形红细胞增多症少见。

关 键 词：遗传性球形红细胞增多症 肝内胆汁淤积 肝脏病理 移码突变 SPT 基因测序 临床症状 新发突变 

分 类 号：R73[医药卫生—肿瘤]