TY - JOUR T1 - 欧洲呼吸杂志JO - - EUR呼吸杂志SP - 1118 LP - 1126 DO - 10.1183 / 13993003.00211-2016 VL - 48 - 4 AU - 利维Marilyne AU遗传肺动脉高压JF儿童的队列分析- Eyries，梅拉妮AU - Szezepanski，伊莎贝尔AU - Ladouceur，马加莉AU - Nadaud，苏菲AU - 博内，达盟 - Soubrier，弗洛朗Y1 - 2016年10月1日UR - //www.qdcxjkg.com/content/4分之48/ 1118.abstract N2 - 种系突变的儿科肺动脉高压（PH）的患病率记录不完整。本研究的目的是确定在儿科队列在PH基因突变频率和描述突变carriers.The研究的临床特征涉及66指数例PH：35名儿童特发性肺动脉高压（IPAH）;五个孩子与家族性PAH（FPAH）;三个孩子与肺静脉闭塞性疾病（PVOD）;而在23名儿童与APAH-CHD发现23名儿童有PAH与先天性心脏疾病（APAH-CHD）相关。无突变。在40名儿童IPAH或FPAH中，发现12个突变：五张BMPR2;四国ACVRL1;三上TBX4。在这三个PVOD情况下，两个携带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 -