新生儿期发病的遗传性血栓性血小板减少性紫癜一例

Hereditary thrombotic thrombocytopenic purpura of neonatal onset:a case report

本文报道了1例新生儿期发病的遗传性血栓性血小板减少性紫癜(thrombotic thrombocytopenic purpura,TTP)病例。患儿为第3胎第3产,2名姐姐均于生后24 h内死亡。本例患儿生后生命体征平稳,血小板计数20×109/L。生后约3 h患儿出现呼吸困难、神志模糊、大面积淤点淤斑、酸中毒和肺出血等,积极予机械通气、扩容、纠酸等综合抢救,但患儿于生后约6 h死亡。全外显子组测序分析发现患儿血管性血友病因子裂解酶基因c.1187G>A(p.C396Y)/c.1595G>T(p.C532F)复合杂合变异,其母亲携带c.1187G>A杂合变异,父亲携带c.1595G>T杂合变异。结合患儿临床特点、家族史及基因检测结果,最终诊断为遗传性TTP。由本例认为,对于新生儿期出现不明原因的血小板减少、贫血、非溶血病性严重黄疸等应提高警惕,及时完善基因检测,及时治疗。

We report a case of hereditary thrombotic thrombocytopenic purpura(TTP)presented in the neonatal period.Two older sisters of this case had died within 24 hours after birth for an unknown reason.We report the third child's treatment and outcome,as a"high-risk child,"admitted to the neonatal intensive care unit(NICU)of Children's Hospital of Nanjing Medical University one hour after birth.The baby's vital signs were stable,with a platelet level of 20×109/L on admission.The baby showed dyspneic,comatose,with large skin petechiae and ecchymoses about three hours after birth.Besides,she was acidotic,and there were signs of pulmonary hemorrhage.Despite a comprehensive rescue consisting of mechanical ventilation,volume expansion therapy,and acid correction,the baby died six hours after birth.Whole-exome sequencing analysis showed that the child had a combined heterozygous mutation of c.1187G>A(p.C396Y)/c.1595G>T(p.C532F)in Willebrand factor-cleaving protease(which is known as a disintegrin and metalloprotease with thrombospondin type I motif 13,ADAMTS13)gene.Her mother and father carried c.1187G>A heterozygous mutation and c.1595G>T heterozygous mutation,respectively.The diagnosis of hereditary TTP was confirmed according to the clinical characteristics,family history,and genetic examination.The possibility of hereditary TTP should be considered for unexplained thrombocytopenia,anemia,severe jaundice of non-hemolytic disease in the neonatal period,and the analysis for the ADAMTS13 enzyme and gene,as well as treatment,should be conducted in time.