Román-Ríos Gabriel, Rosario-Ortiz Gabriel, Ramos-Benitez Marcos J, Mosquera Ricardo A, De Jesús-Rojas Wilfredo
Department of Basic Sciences, Ponce Health Sciences University, Ponce, PR 00716, USA.
Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Adv Respir Med. 2025 Aug 2;93(4):27. doi: 10.3390/arm93040027.
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder that impairs mucociliary clearance and leads to progressive lung disease. This study aimed to characterize lung function decline in a genetically homogeneous cohort of Puerto Rican patients with -associated PCD and to develop a clinical tool to predict lung function decline and support transplant referral decisions. We conducted a retrospective chart review of patients ( = 25) with a confirmed [c.921+3_6delAAGT] genetic variant, collecting longitudinal spirometry data and applying linear regressions to calculate each patient's individual FEV decline. The median FEV at diagnosis was 55%, with a median annual decline of -0.75% predicted. Adults exhibited significantly lower lung function compared to pediatric patients, while no difference was seen between males and females. Based on this observed decline, we developed the Predicted Capacity Decline Index (), an index that estimates the age and time until a patient reaches the 30% FEV threshold, the point at which lung transplant referral is typically considered. Our findings underscore the need for early intervention and suggest that genotype-specific tools like the may enhance clinical decision-making in managing progressive lung disease in PCD.
原发性纤毛运动障碍（PCD）是一种罕见的、基因异质性疾病，它会损害黏液纤毛清除功能并导致进行性肺部疾病。本研究旨在描述一组基因同质性的波多黎各相关PCD患者的肺功能下降情况，并开发一种临床工具来预测肺功能下降并辅助移植转诊决策。我们对确诊存在[c.921+3_6delAAGT]基因变异的25例患者进行了回顾性病历审查，收集了纵向肺量计数据，并应用线性回归来计算每位患者的个体第一秒用力呼气容积（FEV）下降情况。诊断时FEV的中位数为55%，预计年下降中位数为-0.75%。与儿科患者相比，成人的肺功能显著更低，而男性和女性之间未观察到差异。基于观察到的这种下降情况，我们开发了预测容量下降指数（PCDI），该指数可估计患者达到30%FEV阈值（通常考虑进行肺移植转诊的点）所需的年龄和时间。我们的研究结果强调了早期干预的必要性，并表明像PCDI这样的基因型特异性工具可能会增强PCD进行性肺部疾病管理中的临床决策。
