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AU -帽子,Damien盟——Soubrier摘要N2 -生殖系突变在儿科肺动脉高压(PH)中的流行率尚无文献记载。本研究的目的是确定在儿科队列中的PH基因突变频率和描述突变携带者的临床特征。66例PH指标:35例儿童特发性肺动脉高压(IPAH);家族性多环芳烃(FPAH)患儿5例;3例儿童肺静脉阻塞性疾病(PVOD);以及伴有先天性心脏病(APAH-CHD)的23名儿童。在23名患有APAH-CHD的儿童中没有发现突变。在40个患有IPAH或FPAH的儿童中，发现了12个突变:5个在BMPR2上;四个ACVRL1;三是在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 -