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.