TY -的T1 -在一群孩子的基因分析肺动脉高压JF -欧洲呼吸杂志》乔和J SP - 1118 LP - 1126欧元——10.1183/13993003.00211 -2016六世- 48 - 4盟Levy Marilyne盟——巢窝,梅勒妮AU - Szezepanski,伊莎贝尔盟——Ladouceur Magalie盟——Nadaud苏菲盟,帽子,Damien AU - Soubrier, Florent Y1 - 2016/10/01 UR - //www.qdcxjkg.com/content/48/4/1118.abstract N2 -生殖系突变在儿科肺动脉高压(PH)中的流行率缺乏文献记载。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 ER -