该文报道2例遗传性出血性毛细血管扩张症（HHT）患儿，患儿1为12岁男童，因间断咳嗽、气喘10余年入院。患儿及其母亲、外祖母有鼻衄史。患儿既往有脑动静脉畸形破裂出血史。基因检测示患儿存在ENG基因c.277C > T （p.Arg93*）杂合突变。患儿2为13岁女童，因发现口唇发绀1年余入院，有反复鼻衄史，存在肺弥散功能重度下降、肺动脉高压、肺远端血管扩张、双肺细小动静脉交通支。HHT患儿呼吸系统症状不典型，早期非常容易漏诊、误诊，可通过肺部CT或心脏右声学造影等检测手段协助诊断，基因检查可提高该病诊断率。
Abstract：This article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and wheezing for more than 10 years. This boy and his mother and grandmother had a history of epistaxis. The boy had a history of the rupture of cerebral arteriovenous malformations. Gene detection showed a heterozygous mutation, c.277C > T(p.Arg93*), in the ENG gene. Patient 2 was a girl aged 13 years and was admitted due to cyanosis of lips for more than 1 year. The girl had a history of recurrent epistaxis and the manifestations of severe decline in pulmonary diffuse function, pulmonary hypertension, dilation of blood vessels at the distal end of lungs, and small arteriovenous communications in both lungs. Children with HHT often lack typical respiratory symptoms, which may lead to missed diagnosis and misdiagnosis in the early stage. Pulmonary computed tomography or right cardiac acoustic contrast can help with the diagnosis of HHT, and gene detection can improve the early diagnostic rate of this disease.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
[2]
Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia:current views on genetics and mechanisms of disease[J]. J Med Genet, 2006, 43(2):97-110.
Dupuis-Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia:from molecular biology to patient care[J]. J Thromb Haemost, 2010, 8(7):1447-1456.
[5]
Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)[J]. Am J Med Genet, 2000, 90(1):66-67.
[6]
McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al. Hereditary hemorrhagic telangiectasia:genetics and molecular diagnostics in a new era[J]. Front Genet, 2015, 6:1.
[7]
Jutant EM, Puyo P, El Hajjam M, et al. Severe, chronic cough caused by pulmonary arteriovenous malformations in a patient with hereditary haemorrhagic telangiectasia:case report[J]. BMC Pulm Med, 2015, 15:28.
