遗传性凝血因子Ⅴ缺乏症伴胡桃夹综合征患者的临床研究  

Clinical research of patient with hereditary coagulation factorⅤdeficiency combined with nutcracker syndrome

作　　者：董焕 刘晓帆 薛峰 刘葳 陈云飞 付荣凤 杨仁池 张磊 Dong Huan;Liu Xiaofan;Xue Feng;Liu Wei;Chen Yunfei;Fu Rongfeng;Yang Renchi;Zhang Lei(State Key Laboratory of Experimental Hematology,National Clinical Research Center for Blood Diseases,Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,CAMS Key Laboratory of Gene Therapy for Blood Diseases,Tianjin Key Laboratory of Gene Therapy for Blood Diseases,Center for Stem Cell Medicine,Chinese Academy of Medical Sciences,Department of Stem Cell&Regenerative Medicine,Peking Union Medical College,Tianjin 300020,China)

机构地区：[1]中国医学科学院血液病医院(中国医学科学院血液学研究所),实验血液学国家重点实验室,国家血液系统疾病临床医学研究中心,天津市血液病基因治疗研究重点实验室,中国医学科学院血液病基因治疗重点实验室,中国医学科学院干细胞医学中心,北京协和医学院干细胞与再生医学系,天津300020

出　　处：《国际输血及血液学杂志》2021年第2期148-152,共5页International Journal of Blood Transfusion and Hematology

基　　金：国家重点研发计划(2019YFA0110802);国家自然科学基金(81970121、81900126、82000136、81600099);京津冀基础研究合作专项(18JCZDJC44600、H2018206423);天津市应用基础与前沿技术研究计划(19JCZDJC33000、18JCQNJC11900)。

摘　　要：目的探讨遗传性凝血因子Ⅴ缺乏症伴胡桃夹综合征患者的临床特征及诊疗策略。方法选择2017年5月27日,于中国医学科学院血液病医院收治的1例遗传性凝血因子Ⅴ缺乏症伴胡桃夹综合征患者为研究对象。采用回顾性分析法,对其病史、血常规、凝血功能、凝血因子活性及抑制物检查、泌尿系统超声检查结果等临床病例资料进行分析。对本例患者进行出凝血疾病相关基因筛查及家系遗传调查。根据患者临床表现、实验室及辅助检查结果,对其进行诊断和治疗。对其随访日期截至2020年5月25日。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。结果①病史采集:本例患者为男性,26岁。因"反复血尿2+年"于2017年5月27日至本院就诊。当地医院尿常规检查结果:红细胞(3+)、白细胞(±)。膀胱镜检查、腹部平扫及增强CT均未见明显异常,未进行治疗。②本次入院实验室检查结果示:部分凝血活酶时间(APTT)、凝血酶原时间(PT)、FⅤ活性(FⅤ∶C)、FⅫ活性(FⅫ∶C)、FⅤ抗原(FⅤ∶Ag)分别为42.3 s、15.2 s、40%、38%和40%。尿常规结果示:非肾小球源性血尿。泌尿系统超声结果示:左肾"胡桃夹征"阳性。③本例患者致病变异为FⅤ基因17号外显子c.5492T>C杂合突变。④患者母亲及外祖母PT分别为15.3和15.2 s,FⅤ∶C分别为47%和53%。⑤本例患者的出院诊断为轻型遗传性凝血因子Ⅴ缺乏症(Ⅰ型)伴胡桃夹综合征。患者住院期内多次接受血浆、冷沉淀输注等对症治疗。截至随访结束,患者仍间断出现血尿,暂未行外科手术干预治疗。结论本例患者被诊断为轻型遗传性凝血因子Ⅴ缺乏症(Ⅰ型)伴胡桃夹综合征,致病变异为FⅤ基因17号外显子c.5492T>C杂合突变。该患者仅出现反复血尿症状,可能是较低的FⅤ∶C水平加重胡桃夹综合征的出血症状所致。Objective To explore the clinical features,diagnosis and treatment strategies of patients with hereditary congulation factorⅤdeficiency combined with nutcracker syndrome.Methods On May 27,2017,one patient with hereditary congulation factorⅤdeficiency combined with nutcracker syndrome was selected as research object in the Hospital of Blood Disease,Chinese Academy of Medical Sciences.The patient′s medical records,results of complete blood count,coagulation function,coagulation factor activity and inhibitor tests,as well as urinary ultrasound examination were analyzed retrospectively.The hemorrhagic and coagulation diseases related gene screening and family genetic investigation were carried out on this patient and his family members.According to the clinical manifestations,laboratory and auxiliary examination results,diagnosis and treatment of this patient were carried out.The follow-up date was up to May 25,2020.This study was in line with World Medical Association Declaration of Helsinki revised in 2013.Results①This patient was male,and 26 years old.He went to our Hospital on May 27,2017 due to"recurrent hematuria for more than 2 years".The results of routine urine examination in the local hospital showed:red blood cells(3+)and white blood cells(±).Cystoscopy,abdominal and enhanced CT showed no obvious abnormalities.He received no further treatment.②Laboratory results of this patien showed that activated partial thromboplastin time(APTT),prothrombin time(PT),coagulation factor FⅤactivity(FⅤ∶C),FⅫactivty(FⅫ∶C)and FⅤantigen(FⅤ∶Ag)were 42.3 s,15.23 s,40%,38%and 40%,respectively.Urinalysis showed non-glomerular hematuria,and urinary ultrasound revealed that the left kidney had a positive"nutcracker sign".③The pathogenic variant in this patient was a heterozygous mutation with c.5492T>C in exon 17 of FⅤgene.④The PT of the patient′s mother and grandmother were 15.3 and 15.2 s,and FⅤ∶C was 47%and 53%,respectively.⑤This patient was diagnosed as mild hereditary congulation facto

关 键 词：因子Ⅴ缺乏 突变 血尿 遗传性疾病 先天性 诊断 

分 类 号：R554.9[医药卫生—血液循环系统疾病]