高塞氏病(GD)是一种罕见的溶酶体贮积病，可以影响肺部和肺血管。由于对该疾病自然病史的数据有限，GD对呼吸健康的长期影响仍不清楚。我们分析了11,004例GD患者在10-20年内的电子健康记录，以确定肺动脉高压(PH)、肺疾病和其他呼吸合并症的发生率，并更好地了解疾病进展，以指导管理。我们使用拥有1.3亿国际患者的TriNetX研究数据库进行了一项回顾性队列研究。从2000年到2020年，评估了GD患者中原发性/继发性PH、肺心病、间质/阻塞性/限制性肺病、肺出血和肺栓塞的发生率。在随访10到20年期间，所有相关病症的发生率均有所增加。GD患者在20年后PH、肺病和肺出血的过剩风险显著高于10年后。GD的延长随访与PH、肺病和其他呼吸合并症的风险显著增加相关，强调了密切监测和早期干预以减轻长期肺功能下降的必要性。对导致呼吸功能恶化的机制的进一步了解可以支持开发新的治疗方法，以优化高风险肺相关并发症和死亡率的人群的预后。版权所有©2023年，国际抗癌研究学会(乔治·J·德里纳宁奥斯博士)，保留所有权利。

Gaucher disease (GD) is a rare lysosomal storage disorder that can involve the lungs and pulmonary vasculature. The long-term effects of GD on respiratory health remain unclear due to limited data on the natural history of this disease. We analyzed electronic health records for 11,004 patients with GD over 10-20 years to determine the incidence of pulmonary hypertension (PH), lung disease, and other respiratory comorbidities and better understand disease course to guide management.We conducted a retrospective cohort study using the TriNetX research database of 130 million international patients. The incidence of primary/secondary PH, pulmonary heart disease, interstitial/obstructive/restrictive lung disease, pulmonary hemorrhage, and pulmonary embolism was assessed in patients with GD from 2000-2020.Incidence rates of all conditions assessed increased from 10 to 20 years of follow-up. Excess risk of PH, lung disease, and pulmonary hemorrhage was significantly higher in GD patients after 20 versus 10 years.Extended follow-up in GD is associated with substantially higher risks of PH, lung disease and other respiratory comorbidities, highlighting the need for close monitoring and early intervention to mitigate long-term pulmonary decline. Improved understanding of mechanisms driving respiratory deterioration can support the development of novel treatments to optimize outcomes in this population at high risk of pulmonary morbidity and mortality.Copyright © 2023, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.