2日龄新生儿高胆红素血症合并血小板减少  

A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia

作　　者：李晨 陈正[1] 陈鸣艳[1] 马晓路[1] 

机构地区：[1]浙江大学医学院附属儿童医院NICU/国家儿童健康与疾病临床医学研究中心

出　　处：《中国当代儿科杂志》2019年第12期1218-1222,共5页Chinese Journal of Contemporary Pediatrics

摘　　要：1病例介绍(1)病史:患儿女性,生后2d,因发现皮肤黄染半天入院。半天前发现皮肤黄染明显,经皮胆红素测定(前胸)28.8mg/dL,无抽搐、呕吐、腹泻。入院体查:T 37.7℃,P134次/min,R50次/min,BP66/42 mmHg,体重2690g,反应可,全身皮肤及巩膜重度黄染,心肺听诊无异常,肝脾未触及,全身未见瘀点瘀斑,哭声较尖,四肢肌张力正常。A girl was admitted to the hospital on day 2 after birth due to jaundice of the skin and sclera for half a day. The main clinical manifestations were persistent severe jaundice and thrombocytopenia, and she was finally diagnosed with congenital thrombotic thrombocytopenic purpura(TTP). Her conditions were improved after phototherapy, exchange transfusion, and infusion of fresh frozen plasma, red blood cells, and platelets. Gene detection showed a homozygous mutation of c.3650 T>C(p.I1217 T) in the ADAMTS13 gene, while her parents had a heterozygous mutation at this locus. Congenital TTP is a rare autosomal recessive disease, and timely infusion of fresh frozen plasma can achieve a good clinical outcome. This is the first case of congenital TTP caused by homozygous mutation at this locus reported in China and overseas.

关 键 词：新鲜冰冻血浆 皮肤巩膜黄染 血小板减少性紫癜 首例报道 新生儿高胆红素血症 ADAMTS13 光疗 基因检测 

分 类 号：R72[医药卫生—儿科]