Ortiz-Bautista Carlos, Hernández-González Ignacio, Escribano-Subías Pilar
Unidad de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, España.
Unidad de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, España.
Med Clin (Barc). 2017 Mar 22;148(6):265-270. doi: 10.1016/j.medcli.2016.11.031. Epub 2017 Jan 22.
Pulmonary veno-occlusive disease is a rare cause of pulmonary hypertension which is part, together with pulmonary capillary hemangiomatosis, of the special designation (subgroup 1') within pulmonary hypertension group 1 in the latest classification of the pulmonary hypertension World Symposium. Recent discovery that gene mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) are responsible for inherited forms of pulmonary veno-occlusive disease has changed the role of genetic testing, acquiring relevant importance in the diagnosis of these patients. Despite the advances in genetic, cellular and molecular basis knowledge in the last decade, pulmonary veno-occlusive disease remains as a rare aetiology of pulmonary hypertension without any effective medical treatment approved and poor outcomes. This document aims to review the advances occurred in the understanding of pulmonary veno-occlusive disease in the last years.
肺静脉闭塞性疾病是肺动脉高压的一种罕见病因，在最新的肺动脉高压世界研讨会分类中，它与肺毛细血管瘤病一起，属于肺动脉高压第1组中的特殊类别（亚组1'）。最近发现真核翻译起始因子2α激酶4（EIF2AK4）基因突变是遗传性肺静脉闭塞性疾病的病因，这改变了基因检测的作用，在这些患者的诊断中具有重要意义。尽管在过去十年中，我们在遗传、细胞和分子基础方面的知识取得了进展，但肺静脉闭塞性疾病仍然是肺动脉高压的一种罕见病因，尚无任何获批的有效药物治疗，预后较差。本文旨在综述近年来在肺静脉闭塞性疾病认识方面取得的进展。
