医学
ACVRL1型
毛细血管扩张
BMPR2型
安倍生坦
肺动脉高压
毛细血管扩张症
内科学
突变
内皮糖蛋白
心脏病学
外科
基因
波生坦
骨形态发生蛋白
生物化学
化学
遗传学
受体
干细胞
川地34
内皮素受体
生物
作者
Fanhao Ye,Jiang Wen-bing,Wei Lin,Yi Wang,Hao Chen,Zou He,Shi‐Wei Huang,Ning Zhu,Sisi Han
出处
期刊:Medicine
[Wolters Kluwer]
日期:2020-07-31
卷期号:99 (31): e21342-e21342
被引量:7
标识
DOI:10.1097/md.0000000000021342
摘要
BMPR2 mutation is the most common cause of heritable pulmonary arterial hypertension (HPAH), but rare in hereditary hemorrhagic telangiectasia (HHT). ACVRL1, ENG and SMAD4 are the most common gene mutations reported in HPAH with HHT.We report a 11-year-old boy with a definite diagnosis of pulmonary hypertension and suspected HHT with recurrent epistaxis. The results of gene detection showed that there was a nosense mutation in BMPR2. The results of gene detection of ACVRL1, ENG and SMAD4 were normal.Heritable pulmonary arterial hypertension with suspected hereditary hemorrhagic telangiectasia.Patient was treated with ambrisentan 2.5 mg qd. About a month later, the patient developed massive gastrointestinal bleeding and sudden convulsions. The patient's vital signs were stable after symptomatic treatment.After discharging from hospital, the patients continued to take ambrisentan. No epistaxis or gastrointestinal bleeding was found in one month of follow-up, but the symptoms of chest tightness were not significantly alleviated.BMPR2 with a nonsense mutation is more likely to cause HPAH with HHT and are more likely to be life-threatening.
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