新生儿家族性非典型溶血性尿毒综合征1例基因分析并文献复习

Neonatal Genetic Atypical Hemolytic Uremic Syndrome: Genetic Analysis of a Case and Literature Review

目的探讨新生儿家族性非典型溶血性尿毒综合征的临床及基因变异特点。方法回顾分析新生儿家族性非典型溶血性尿毒综合征(aHUS)患儿的临床资料及家系基因检测结果,并进行相关文献复习。结果男性患儿,双胎之一,另一胎35周宫内死亡,早产剖宫产,出生即表现为贫血、血小板减少、无尿、血尿,初步诊断溶血性尿毒综合征。随即采取肾脏替代治疗和血浆置换,肾功能逐渐恢复。但生后第5天经颅脑B超发现脑室及脑实质大量出血,家长考虑到神经系统后遗症要求放弃治疗。结论目前该病基因确诊病例较少,基因检测有助于确诊新生儿非典型溶血性尿毒综合征。

Objective To investigate the clinical and gene variation characteristics of neonatal genetic atypical hemolytic uremic syndrome(aHUS).Methods The clinical data and gene test results of an aHUS infant were retrospectively analyzed,and relevant literature was reviewed.Results The baby who was male,twin(the other was dead in utero at the 35 th week of pregnancy),underwent premature delivery and cesarean section,with the presentation of anemia,thrombocytopenia,anuria and hemorrhagic urine after birth,was initially diagnosed as hemolytic uremic syndrome.The renal replacement therapy and plasma exchange were taken immediately.Finally,the renal function gradually recovered.However,on the 5 th day after birth,a massive hemorrhage was found in ventricle and brain parenchyma by cranial B-ultrasoundcranial,and the parents asked to give up treatment because they worried about the sequelae of the nervous system.Conclusion Currently,the genetic diagnosis of the disease is rare,and genetic testing is helpful for the diagnosis of neonatal aHUS.