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首页> 外文期刊>The American Journal of Cardiology >Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers
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Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers

机译：儿童BMPR2和ALK1突变携带者的肺动脉高压结果

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Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene and the activin receptor-like kinase 1 (ALK1) gene have been reported in heritable pulmonary arterial hypertension (HPAH) and idiopathic pulmonary arterial hypertension (IPAH). However, the relation between clinical characteristics and each gene mutation in IPAH and HPAH is still unclear, especially in childhood. The aim of this study was to determine, in a retrospective study, the influence and clinical outcomes of gene mutations in childhood IPAH and HPAH. Fifty-four patients with IPAH or HPAH whose onset of disease was at <16 years of age were included. Functional characteristics, hemodynamic parameters, and clinical outcomes were compared in BMPR2 and ALK1 mutation carriers and noncarriers. Overall 5-year survival for all patients was 76%. Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH. Five-year survival was lower in BMPR2 mutation carriers than mutation noncarriers (55% vs 90%, hazard ratio 12.54, p = 0.0003). ALK1 mutation carriers also had a tendency to have worse outcome than mutation noncarriers (5-year survival rate 64%, hazard ratio 5.14, p = 0.1205). In conclusion, patients with childhood IPAH or HPAH with BMPR2 mutation have the poorest clinical outcomes. ALK1 mutation carriers tended to have worse outcomes than mutation noncarriers. It is important to consider aggressive treatment for BMPR2 or ALK1 mutation carriers.
机译：遗传性肺动脉高压（HPAH）和特发性肺动脉高压（IPAH）的骨形态发生蛋白受体2型（BMPR2）基因和激活素受体样激酶1（ALK1）基因发生突变。但是，IPAH和HPAH中临床特征与每个基因突变之间的关系仍不清楚，尤其是在儿童时期。这项研究的目的是在一项回顾性研究中确定基因突变对儿童IPAH和HPAH的影响和临床结果。包括54名IPAH或HPAH患者，其发病年龄<16岁。比较了BMPR2和ALK1突变携带者和非携带者的功能特征，血液动力学参数和临床结果。所有患者的总体5年生存率为76％。在54例儿童期IPAH或HPAH患者中检测到18个BMPR2突变携带者和7个ALK1突变携带者。 BMPR2突变携带者的五年生存率低于非突变携带者（55％比90％，危险比12.54，p = 0.0003）。 ALK1突变携带者也比非携带者具有更差的结果（5年生存率64％，危险比5.14，p = 0.1205）。总之，儿童期IPAH或BMPR2突变的HPAH患者的临床结局最差。 ALK1突变携带者倾向于比突变非携带者具有更差的结果。考虑对BMPR2或ALK1突变携带者进行积极治疗很重要。

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