Chest:端粒相关基因突变的肺纤维化患者的肺移植结局

2019-04-10 xiangting MedSci原创

端粒相关基因TERT、RTEL1或PARN的罕见突变与PF肺移植受者移植后的结局差相关。

肺纤维化(PF)是肺移植最常见的疾病指征。最近的研究表明,PF疾病风险中端粒相关基因TERT、RTEL1和PARN中存在过量的稀有基因突变。这些突变对移植后结局的影响尚不确定。这项研究目的是确定具有这些PF相关变异体的患者是否移植后急性排斥反应(AR)、慢性肺移植物功能障碍(CLAD)和存活率也有所改变。

该研究队列由262名PF肺移植受者组成,这些患者先前通过全外显子测序进行遗传学表征。31名患者(31/262,11.8%)在TERT、RTEL1或PARN中有变异,而231名患者(231/262,88.2%)没有变异。使用调整相关临床变量的多因素Cox比例风险模型评估死亡和CLAD的结局。对移植后第一年的AR负担进行量化和比较。

与无突变的患者比较,TERT、RTEL1或PARN上有疾病相关突变的PF患者死亡(调整后HR 1.82,95%CI 1.07-3.08,p=0.03)和CLAD风险显著升高(调整后HR 2.88,95%CI 1.42-5.87, p=0.004)。两组间的AR负担或3级原发移植物功能障碍发生率无差异。

端粒相关基因TERT、RTEL1或PARN的罕见突变与PF肺移植受者移植后的结局差相关。需要进一步的研究以了解端粒相关突变增加死亡和CLAD风险的生物学机制。

原始出处:

Aparna C. Swaminathan. Lung Transplant Outcomes in Pulmonary Fibrosis Patients with Telomere-Related Gene Variants. Chest. 09 April 2019.

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    2019-11-11 Smile2680
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