Mohite Kaustubh, Sapare Anil Kumar
Department of Pediatrics, Narayana Health City, Bengaluru, Karnataka, India.
Lung India. 2022 Mar-Apr;39(2):191-194. doi: 10.4103/lungindia.lungindia_252_21.
Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated. Being a rapidly progressive disease, early diagnosis is of utmost importance which helps to initiate appropriate treatment. Recent studies suggest that PVOD has a genetic predisposition and has an autosomal recessive pattern of inheritance. Here, we discuss the case of siblings diagnosed with PVOD to have such genetic predisposition for this disease.
肺静脉闭塞性疾病（PVOD）是肺动脉高压（PAH）的一个重要病因，归类于特发性PAH。在过去一段时间里，西方国家对PVOD进行了详细研究并制定了各种诊断标准。作为一种快速进展性疾病，早期诊断至关重要，这有助于启动适当的治疗。最近的研究表明，PVOD具有遗传易感性，呈常染色体隐性遗传模式。在此，我们讨论一对被诊断为PVOD的兄弟姐妹具有该疾病遗传易感性的病例。
