新生儿血友病A 11例病例系列报告

目的 探讨新生儿血友病A的临床表现、诊治及预后。方法 对复旦大学附属儿科医院2016年2月1日至2019年6月30日收治的11例新生儿血友病A临床资料进行回顾性分析。结果 11例新生儿血友病患儿均为男性,3例有明确血友病家族史。2例无出血表现,2例仅表现为皮肤瘀点瘀斑,7例有出血表现。出血部位包括硬膜下、颅内、皮下、消化道。11例活化部分凝血酶时间(APTT)均延长,均为凝血因子Ⅷ缺乏,中间型9例,重型和轻型各1例。5例行基因检测者证实FⅧ基因突变,缺失2例,点突变3例。血友病A确诊后予静脉输注Ⅷ因子。随访至2019年6月9~10日,1例失访,4例无出血表现,1例有踝关节自发出血表现,5例表现为外伤后皮肤瘀点/皮下血肿。结论 新生儿期多次凝血功能异常,以APTT延长为主,特别是延长＞3倍者有或无出血表现均应考虑血友病可能,应行凝血因子活性水平测定及基因检测及早确诊,早期诊断和预防性输注凝血因子可改善预后。

Clinical analysis of 11 cases of neonatal hemophilia A

Objective To discuss the clinical features,diagnosis, treatment and prognosis of hemophilia A in neonates.Methods The clinical records of 11 neonates with hemophilia A who were referred to Children's Hospital of Fudan University from February 2016 to June 2019 were reviewed retrospectively.Results All 11 cases of neonatal hemophilia A were males, and only 3 cases had hemophilia family history. There was no bleeding in 2 cases, only skin ecchymosis in 2 cases, and bleeding in other 7 cases. The bleeding sites included subdural, intracranial, subcutaneous areas and digestive tracts. All patients had prolonged activated partial thromboplastin time(APTT) and deficiency of factor Ⅷ,including 9 intermediate cases, 1 severe case and 1 mild case. FⅧ gene mutation was confirmed in 5 cases, including deletion in 2 cases and point mutation in 3 cases. After diagnosis, they were treated with factor Ⅷ infusion. Up to June 2019, 1 case has lost follow-up; 4 cases have had no bleeding; only 1 case has had spontaneous hemorrhage of ankle joint, and the remaining cases have showed skin bruise/subcutaneous hematoma after trauma.Conclusion For multiple abnormal of coagulation function especially APTT prolonged three times in neonatal period, with or without hemophilia, the possibility of hemophilia should be considered. It is supposed to complete the determination of coagulation factor activity level and gene detection should be completed as soon as possible to make a definite diagnosis, and early diagnosis and prophylactic infusion of coagulation factors can improve the prognosis.