少见、罕见疾病所致门静脉高压症的诊断与治疗

Diagnosis and treatment of portal hypertension caused by rare diseases

少见、罕见疾病所致门静脉高压症多属于窦前性(肝前)或肝后性门静脉高压症。因多数为非肝硬化门静脉高压症,故肝静脉压力梯度不能准确反映其门静脉压力,临床诊治存在较大困难。此类疾病种类较多,重点介绍了6种少见、罕见疾病所致门静脉高压症的机理和治疗进展,并就目前的治疗现状进行了总结,希望对提高临床医生对此类疾病的认识有所帮助。

Portal hypertension caused by rare diseases is mostly presinusoidal( prehepatic) or posthepatic. It is non-cirrhotic portal hypertension in most cases,so hepatic venous pressure gradient cannot accurately reflect the portal venous pressure of such patients,which causes difficulties in clinical diagnosis and treatment. There are many diseases in this category. This article introduces the advances in the pathogenesis and treatment of portal hypertension caused by six rare diseases and summarizes the current status of treatment,in order to help improve the awareness of these diseases among clinicians.