@article {Levy1118，作者= {利维Marilyne和Eyries中，M {\'E} lanie和Szezepanski，Isabelle和Ladouceur，马加莉和Nadaud，柔和阀盖，达明和Soubrier，弗洛朗}，标题= {遗传的分析肺动脉高压儿童}，体积= {} 48，数= {4}页= {} 1118--1126，年份= {} 2016，DOI = {10.1183 / 13993003.00211-2016}，出版商= {欧洲呼吸的队列社会}，抽象= {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。 In the three PVOD cases, two carried the EIF2AK4 mutation. 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}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/48/4/1118}, eprint = {//www.qdcxjkg.com/content/48/4/1118.full.pdf}, journal = {European Respiratory Journal} }