Ishiwata Tsukasa, Terada Jiro, Tanabe Nobuhiro, Abe Mitsuhiro, Sugiura Toshihiko, Tsushima Kenji, Tada Yuji, Sakao Seiichiro, Kasahara Yasunori, Nakanishi Norifumi, Morisaki Hiroko, Tatsumi Koichiro
Department of Respirology, Graduate School of Medicine, Chiba University, Japan.
Intern Med. 2014;53(20):2359-63. doi: 10.2169/internalmedicine.53.2850. Epub 2014 Oct 15.
A 17-year-old Japanese girl visited our hospital for an evaluation of exertional dyspnea. A diagnosis of pulmonary arterial hypertension (PAH) was confirmed based on the findings of right heart catheterization. Detailed questioning revealed a family history of hereditary hemorrhagic telangiectasia (HHT), and a genetic mutation analysis disclosed a mutation in the activin receptor-like kinase 1 gene (ACVRL1). The patient was finally diagnosed with HHT according to the Curaçao diagnostic criteria eight years after the diagnosis of PAH. This case supports previous reports indicating that signs of PAH can be the first manifestation of disease in ACVRL1 mutation carriers.
一名17岁的日本女孩因劳力性呼吸困难前来我院就诊。根据右心导管检查结果确诊为肺动脉高压（PAH）。详细询问发现有遗传性出血性毛细血管扩张症（HHT）家族史，基因检测分析显示激活素受体样激酶1基因（ACVRL1）存在突变。在诊断为PAH八年后，根据库拉索岛诊断标准，该患者最终被诊断为HHT。该病例支持了之前的报道，即PAH症状可能是ACVRL1突变携带者疾病的首发表现。
