El Khachine Imane, Boukharta Abdelkader, Zahraoui Rachida, El Bourkadi Jamal Eddine, Soualhi Mouna
Pulmonology Department, Moulay Youssef Hospital, Centre Hospitalo-Universitaire (CHU) Ibn Sina, Rabat, MAR.
Respiratory Department, Hospital Mohammed VI University Hospital Center, Tangier, MAR.
Cureus. 2025 Jul 20;17(7):e88375. doi: 10.7759/cureus.88375. eCollection 2025 Jul.
Kartagener syndrome is a rare genetic disorder characterized by the classic triad of situs inversus, bronchiectasis, and chronic sinusitis. The progression to destroyed lung syndrome represents an exceptionally rare complication, with only a few cases reported in the literature. We present the cases of two Moroccan sisters, aged 20 and 26, born from a first-degree consanguineous marriage, presenting with chronic respiratory symptoms but with different phenotypes. The first patient had a severe phenotype including destroyed lung syndrome, chronic bronchitis, recurrent infections, and imaging findings of dextrocardia with extensive lung tissue destruction. The second patient presented with chronic cough, anosmia, and bronchiectasis with less severe pulmonary involvement than her sibling. Imaging studies confirmed complete situs inversus in both cases. Diagnosis relies on clinical and radiological criteria. These cases highlight the phenotypic variability of Kartagener syndrome in the same family and the possibility of severe pulmonary involvement leading to a completely destroyed lung, a very rare but possible complication. Hence, it is important to regularly screen patients for lung parenchymal destruction and regularly monitor those with severe radiographic changes.
卡塔格内综合征是一种罕见的遗传性疾病,其特征为具有内脏转位、支气管扩张和慢性鼻窦炎这一典型三联征。进展为肺毁损综合征是一种极其罕见的并发症,文献中仅报道了少数病例。我们报告了两名摩洛哥姐妹的病例,她们分别为20岁和26岁,出生于一级近亲婚姻家庭,均有慢性呼吸道症状,但表型不同。第一名患者有严重的表型,包括肺毁损综合征、慢性支气管炎、反复感染,以及右位心伴广泛肺组织破坏的影像学表现。第二名患者表现为慢性咳嗽、嗅觉丧失和支气管扩张,肺部受累程度较其姐妹轻。影像学检查证实两名患者均有完全性内脏转位。诊断依赖于临床和影像学标准。这些病例凸显了同一家庭中卡塔格内综合征的表型变异性,以及严重肺部受累导致肺完全毁损这种非常罕见但有可能出现的并发症。因此,定期筛查患者的肺实质破坏情况并对有严重影像学改变的患者进行定期监测很重要。