De Jesús Miguel A, De Jesús-Rojas Wilfredo
Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA.
J Clin Med. 2025 May 21;14(10):3612. doi: 10.3390/jcm14103612.
: Primary Ciliary Dyskinesia (PCD) is a rare genetic condition characterized by compromised mucociliary clearance and chronic respiratory manifestations. Anosmia, or the loss of smell, is a lesser-known but clinically relevant symptom that can significantly impact patient safety, nutritional status, and the overall quality of life. The (c.921+3_921+6delAAGT) founder mutation is highly prevalent among Puerto Rican individuals with PCD and may carry distinct phenotypic implications. This study aimed to evaluate olfactory function in Puerto Rican PCD patients with this mutation using the Brief Smell Identification Test (BSIT) and to assess associations with age and sex. : We conducted a case-control study involving 30 participants, including 15 PCD patients with genetically confirmed mutations and 15 age- and sex-matched healthy controls. All participants completed the BSIT, and BSIT scores were compared by diagnosis, sex, and age. : PCD patients had significantly lower BSIT scores than controls ( = 0.0015). When stratified by sex, both male ( = 0.0289) and female ( = 0.0178) PCD patients demonstrated significantly lower BSIT scores compared to their respective healthy counterparts. Regression analysis showed a significant inverse correlation between age and BSIT score in the PCD group (r = 0.2873; = 0.0395), while no such relationship was observed in controls (r = 0.0096; = 0.7283). Among PCD patients, age-related decline in olfactory function was more pronounced in females (r = 0.71; = 0.005) than in males (r = 0.31; = 0.25). : These findings demonstrate that the founder mutation is associated with measurable olfactory impairment in PCD patients, particularly in females and with advancing age. The routine assessment of olfactory function should be considered in the clinical evaluation of patients with PCD, as anosmia may represent a key phenotypic feature and contribute to disease burden.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，其特征是黏液纤毛清除功能受损和慢性呼吸道表现。嗅觉丧失，即嗅觉减退，是一种鲜为人知但在临床上相关的症状，可显著影响患者安全、营养状况和整体生活质量。（c.921+3_921+6delAAGT）奠基者突变在患有PCD的波多黎各人中高度流行，可能具有独特的表型影响。本研究旨在使用简易嗅觉识别测试（BSIT）评估携带此突变的波多黎各PCD患者的嗅觉功能，并评估其与年龄和性别的关联。：我们进行了一项病例对照研究，涉及30名参与者，包括15名基因确诊携带突变的PCD患者和15名年龄及性别匹配的健康对照。所有参与者均完成了BSIT，并通过诊断、性别和年龄对BSIT评分进行比较。：PCD患者的BSIT评分显著低于对照组（P = 0.0015）。按性别分层时，男性（P = 0.0289）和女性（P = 0.0178）PCD患者的BSIT评分均显著低于各自的健康对照。回归分析显示，PCD组年龄与BSIT评分之间存在显著负相关（r = 0.2873；P = 0.0395），而对照组未观察到这种关系（r = 0.0096；P = 0.7283）。在PCD患者中，女性（r = 0.71；P = 0.005）的嗅觉功能随年龄下降比男性（r = 0.31；P = 0.25）更明显。：这些发现表明，该奠基者突变与PCD患者可测量的嗅觉损害有关，尤其是在女性和年龄增长时。在PCD患者的临床评估中应考虑常规评估嗅觉功能，因为嗅觉丧失可能是一个关键的表型特征并加重疾病负担。
