以鼻出血为主要症状的遗传性出血性毛细血管扩张症基因诊断及治疗
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摘要
目的:探讨以鼻出血为主要症状的遗传性出血性毛细血管扩张症(HHT)的基因诊断及治疗,分析家系ACVRL1基因突变。方法:对先证者进行详细的家系调查,对先证者的父亲及儿子进行凝血障碍相关的69个基因高通量测序和分析。结果:该家系4代包括先证者在内30人中共11例患者。患者及其父亲均检测出同一个致病突变ACVRL1_ex9c.1313T>C(p.M438T)。结论:该HHT家系以反复鼻出血为主要表现,ACVRL1基因突变是该家系的致病基因,可采用手术和药物治疗。
Objective:The aim of this study is to investigate the gene diagnosis and the treatment of hereditary hemorrhagic telangiectasia(HHT)with epistaxis as the main symptom,and to analyze the mutation of ACVRL1 gene in the family.Method:Detailed pedigree investigation was carried out on the proband.Sixty-nine genes related to coagulation disorder were sequenced and analyzed by high throughput sequencing for the father and son of the proband.Result:Four generations of the family consisted of 30 probands,including 11 patients.A pathogenic mutation ACVRL1_ex9 c.1313 T > C(p.M438 T)was detected in both patient and his father.Conclusion:Recurrent epistaxis is the main manifestation of hereditary hemorrhagic telangiectasia in this family.The mutation of ACVRL1 gene is the pathogenic gene of this family,which can be treated by surgery and medicine.
Objective:The aim of this study is to investigate the gene diagnosis and the treatment of hereditary hemorrhagic telangiectasia(HHT)with epistaxis as the main symptom,and to analyze the mutation of ACVRL1 gene in the family.Method:Detailed pedigree investigation was carried out on the proband.Sixty-nine genes related to coagulation disorder were sequenced and analyzed by high throughput sequencing for the father and son of the proband.Result:Four generations of the family consisted of 30 probands,including 11 patients.A pathogenic mutation ACVRL1_ex9 c.1313 T > C(p.M438 T)was detected in both patient and his father.Conclusion:Recurrent epistaxis is the main manifestation of hereditary hemorrhagic telangiectasia in this family.The mutation of ACVRL1 gene is the pathogenic gene of this family,which can be treated by surgery and medicine.
引文
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[2]贾婧杰,张静,赵立东,等.Ⅱ型遗传性毛细血管扩张症临床特点和ACVRL1基因筛查[J].中华医学杂志,2012,92(16):1107-1111.
[3]籍灵超,贾婧杰,张静,等.遗传性出血性毛细血管扩张症诊断和治疗国际指南[J].中国医学文摘(耳鼻咽喉科学),2014,29(1):40-55.
[4]张树贤,任玲,徐静,等.遗传性出血性毛细血管扩张症一家系诊断与治疗研究[J].临床医药实践,2017,26(1):10-13.
[5]林家峰,陈剑秋,王宝东,等.遗传性出血性毛细血管扩张症1例及家系报告[J].临床耳鼻咽喉头颈外科杂志,2014,28(3):209-211.
[6]DUPUIS-GIROD S,GINON I,SAURIN J C,et al.Bevacizumab in patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations and high cardiac output[J].JAMA,2012,307:948-949.