Fenner Elizabeth G, Simpson Catherine E
Division of Pulmonary and Critical Care Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA.
Pulm Circ. 2024 Jul 9;14(3):e12411. doi: 10.1002/pul2.12411. eCollection 2024 Jul.
Pulmonary arterial hypertension (PAH) is a poorly understood disease of the small pulmonary arteries. Pulmonary vascular remodeling and progressively rising pulmonary vascular resistance are hallmarks of the disease that ultimately result in right heart failure. Several genetic mutations, most notably in bone morphogenetic protein receptor type 2, have a causal association with heritable forms of PAH. Mutations in ( have been reported in adults and children with PAH, but whether is causally associated with PAH is debated. With this case report, we describe the clinical characteristics, comorbidities, and exposure history of an adult patient with PAH and multiple sclerosis who was found to have a missense mutation and exposure to leflunomide.
肺动脉高压（PAH）是一种人们了解较少的小肺动脉疾病。肺血管重塑和逐渐升高的肺血管阻力是该疾病的标志，最终会导致右心衰竭。几种基因突变，最显著的是骨形态发生蛋白受体2型的突变，与遗传性PAH存在因果关联。PAH成人和儿童中已报告存在（此处原文缺失具体基因名称）的突变，但该基因是否与PAH存在因果关联仍存在争议。通过本病例报告，我们描述了一名患有PAH和多发性硬化症的成年患者的临床特征、合并症及暴露史，该患者被发现存在（此处原文缺失具体基因名称）错义突变并接触过来氟米特。
