Ty-jour t1 - 肺动脉高压群组群组遗传分析JF - 欧洲呼吸期刊Jo - Eur Respir J SP - 1118 LP - 1126 Do - 10.1183 / 13993003.00211-2016 VL - 48是 - 4 Au - Levy，Marilyne Au- Eyries，Mélanieau - Szezepanski，Isabelle Au - Ladouceur，Magalie Au - Nadyaud，Sophie Au - Bonnet，Damien Au - Souberier，佛罗伦特Y1 - 2016/10/01 UR - //www.qdcxjkg.com/content/48/4 / 1118.Abstract N2 - 小儿肺动脉高压（pH）中种系突变的患病率记录不佳。本研究的目的是确定儿科队列中pH基因中的突变频率，并描述突变载体的临床特征。研究涉及66例PH：35例具有特发性肺动脉高压的患者（IPAH）;五个家族普（FPAH）的孩子;三个患有肺静脉闭塞病的疾病（PVOD）;和23名患有与先天性心脏病（APAH-CHD）的儿童。在23名患有APAH-CHD的儿童中发现了NO突变。在40名患有IPAH或FPAH的儿童中，发现了12个突变：BMPR2上的五个突变;ACVRL1上的四个;和tbx4上的三个。在三种PVOD病例中，两种携带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 -