Kartagener Syndrome in Two Siblings: A Familial Case Report With Phenotypic Variability and Destroyed Lung Syndrome as a Rare Complication

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.

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Journal
Cureus
Published
2025-07-20
DOI
https://doi.org/10.7759/cureus.88375
Primary Topic
Cystic Fibrosis Research Advances
Type
article
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article

Kartagener Syndrome in Two Siblings: A Familial Case Report With Phenotypic Variability and Destroyed Lung Syndrome as a Rare Complication

R. Zahraoui, I. El Khachine, J.E. Bourkadi, M. Soualhi et al.
Cureus
Cystic Fibrosis Research Advances
article

Kartagener Syndrome in Two Siblings: A Familial Case Report With Phenotypic Variability and Destroyed Lung Syndrome as a Rare Complication

R. Zahraoui, I. El Khachine, J.E. Bourkadi, M. Soualhi, Abdelkader Boukharta
article en

Abstract

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.

CureusVol. 17(7)
Centre Hospitalier Universitaire Mohammed VI (MA), Centre Hospitalier Ibn Sina (MA)
Openalex Percentile: Top 72%
Cystic Fibrosis Research Advances
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Kartagener Syndrome in Two Siblings: A Familial Case Report With Phenotypic Variability and Destroyed Lung Syndrome as a Rare Complication — R. Zahraoui, I. El Khachine, et al. · Cureus (2025) | TGRS Research Map | TGRS