Gupta Pukar, Adhikari Pradeep, Ghimire Prashant, Nepal Susmita, Mandal Anjali, Ghimire Dipendra, Katwal Sitaram, Katwal Prakriti, Thapa Roshni
National Health Action Force Nepal, Kathmandu, Nepal.
Chitwan Medical College, Bharatpur, Chitwan, Nepal.
Ann Med Surg (Lond). 2025 Feb 6;87(3):1687-1691. doi: 10.1097/MS9.0000000000002987. eCollection 2025 Mar.
Kartagener syndrome (KS), a rare subgroup of primary ciliary dyskinesia (PCD) with an autosomal recessive pattern of inheritance, is characterized by the clinical findings affecting the ciliary movement. It typically presents with a triad of sinusitis, bronchiectasis, and situs inversus, while cases lacking situs inversus are termed as incomplete KS posing diagnostic challenges.
A 42-year-old, non-smoker, non-alcoholic Nepalese male with a history of recurrent cough, nasal discharge, and infertility was diagnosed with incomplete KS. His clinical examination revealed coarse crackles bilaterally and rhonchi while spirometry showed mixed obstruction and restrictive patterns. His imaging findings clearly indicated infective bronchiectasis. Symptomatic management and multidisciplinary care were initiated for him.
This case reveals the complexity of diagnosing incomplete KS, a subgroup of PCD. The presence of post-infective bronchiectasis, recurrent sinusitis strongly supported the diagnosis. Successful medical intervention and ongoing multidisciplinary management are crucial for addressing the patient's diverse clinical manifestations.
This case highlights the importance of recognizing the varied presentations of KS and/or PCD and the need for a multidisciplinary approach to its management. Increased clinical awareness and timely diagnosis are essential for improving patient outcomes and effectively managing potential complications.
卡塔格纳综合征（KS）是原发性纤毛运动障碍（PCD）的一个罕见亚组，具有常染色体隐性遗传模式，其特征是影响纤毛运动的临床表现。它通常表现为鼻窦炎、支气管扩张和内脏转位三联征，而缺乏内脏转位的病例被称为不完全性KS，这给诊断带来了挑战。
一名42岁、不吸烟、不饮酒的尼泊尔男性，有反复咳嗽、流涕和不孕史，被诊断为不完全性KS。他的临床检查显示双侧有粗湿啰音和干啰音，而肺功能检查显示混合性阻塞和限制性模式。他的影像学检查结果明确显示为感染性支气管扩张。对他开始了对症治疗和多学科护理。
该病例揭示了诊断不完全性KS（PCD的一个亚组）的复杂性。感染后支气管扩张和复发性鼻窦炎的存在有力地支持了诊断。成功的医学干预和持续的多学科管理对于应对患者的各种临床表现至关重要。
该病例强调了认识KS和/或PCD各种表现的重要性以及对其进行多学科管理的必要性。提高临床意识和及时诊断对于改善患者预后和有效管理潜在并发症至关重要。
