RT期刊文章SR电子T1基因分析一群儿童肺动脉高压摩根富林明欧洲呼吸杂志乔和J FD欧洲呼吸学会SP 1118欧元OP 1126 10.1183/13993003.00211 -2016签证官48是4 A1 Levy Marilyne A1巢窝,梅勒妮A1 Szezepanski,伊莎贝尔A1 Ladouceu188bet官网地址r, Magalie A1 Nadaud,Sophie A1 Bonnet, Damien A1 Soubrier, Florent YR 2016 UL //www.qdcxjkg.com/content/48/4/1118.abstract AB关于儿童肺动脉高压(PH)中生殖系突变的患病率的文献很少。本研究的目的是确定儿科队列PH基因的突变频率，并描述突变携带者的临床特征。本研究涉及66例PH指标患者:35例特发性肺动脉高压患儿;家族性PAH (FPAH)患儿5例;小儿肺静脉闭塞症(PVOD) 3例;23例PAH合并先天性心脏病(APAH-CHD)患儿。在23例APAH-CHD患儿中未发现突变。在40名IPAH或FPAH患儿中，发现了12个突变:5个在BMPR2上;四个ACVRL1;3个在TBX4上。在3例PVOD病例中，2例携带EIF2AK4突变。 Mutation carriers had a more severe disease at diagnosis and more aggressive first-line therapy was required. The three patients with PVOD had a very severe disease at diagnosis and required a lung transplantation.The genetic architecture of paediatric PAH is enriched in ACVRL1 and TBX4 mutations compared to adult PAH, but further studies are required to confirm these results. Childhood-onset PAH in children carrying a mutation in one of the genes tested has a more severe presentation at diagnosis but a similar outcome to that observed in non-carriers.Paediatric pulmonary hypertension has a specific genetic architecture http://ow.ly/54yP301hCQi