2例新生儿血友病临床诊治分析及文献复习

Clinical analysis of 2cases with hemophilia in neonatal period and literature review

目的:提高临床医师对新生儿期发病血友病患儿诊断及治疗的早期认识。方法:选取我院新生儿科2014年诊治的2例血友病患儿,结合临床资料及相关文献,比较其临床表现、诊治经过及预后,讨论血友病新生儿期发病的诊疗经验及教训。结果:2例患儿均为男性,均为血友病A(重型);2例均为剖宫产出生,但病例2为顺产转剖宫产,2例均无器械分娩等辅助分娩史。2例患儿入院时间分别为生后4天和1天,确诊年龄分别为出生后6天及24天。2例患儿早期均有高胆红素血症,均无颅内出血。其中病例1还表现为皮肤瘀斑及医源性穿刺部位血肿,出生后第6天确诊血友病,给予凝血因子或血浆治疗后随访短期内预后良好;病例2出生后第1天因黄疸、头颅血肿住院,经退黄、换血等治疗效果不佳,继发胆汁淤积性肝炎,于出生后24天转入我院,经检查确诊血友病,给予相应治疗,家长放弃治疗,出院1周后继发严重颅内出血合并脑疝死亡。结论:血友病目前尚无特异的根治方法,强调对新生儿期发病的血友病患儿早期认识及早期预防性治疗对改善预后,降低致残率及致死率有较大意义。

Objective：To improve the recognition of clinical physician in diagnosis and treatment for children with hemophilia in neonatal periods.Method：Two newborns with hemophilia were selected in this paper.By combining with clinical data and related literature,we compared their clinical manifestation,diagnosis and treatment and prognosis in order to discuss the experience for hemophilia in neonatal period.Result：Both patients were female and their diagnosis was hemophilia A（severe）.Both patients were born by cesarean section without equipment labor although case two altered from nature labor.The two patients admitted in hospital in the 4th and 1st day respectively after birth and confirmed the diagnosis in the 6th and 24 th day.Both patients manifested with hyperbilirubinemia and without intracranial hemorrhage at administration.For case one,the patient also manifested with ecchymosis and iatrogenic hematoma in puncture sites.By diagnosed of hemophilia in 6th day and treated with factorⅧand FFP,the patient was followed up with a good short-term prognosis.For case two,the patient admitted by hyperbilirubinemia and cephalohematoma.After treated with phototherapy and exchange transfusion,the patient got poor effect and developed cholestasis hapetitis.He was confirmed the diagnosis of hemophilia on 24 th day after admitted to our hospital and received the treatment.His parents gave up then and severe secondarily intracranial hemorrhage combined with cerebral hernia caused the death.Conclusion：There is no specific radical cure for hemophilia.Early diagnosis and prophylaxis treatment for patients with hemophilia in neonatal periods means better prognosis as well as lower morbidity and mortality rate.