Indian Journal of Respiratory Care

IJRC Email      Register      Login

VOLUME 13 , ISSUE 2 ( April-June, 2024 ) > List of Articles


Case Series of Kartagener Syndrome: A Rare Genetic Disorder with Variable Pulmonary Presentation

Anand Rajendran, Thoupikka M, Maria L Rashmi, Ananthi M, Sneha Joshi

Keywords : Bronchiectasis, Case report, Immotile cilia, Infertility, Kartagener syndrome, Pneumothorax

Citation Information : Rajendran A, M T, Rashmi ML, M A, Joshi S. Case Series of Kartagener Syndrome: A Rare Genetic Disorder with Variable Pulmonary Presentation. Indian J Respir Care 2024; 13 (2):136-139.

DOI: 10.5005/jp-journals-11010-1107

License: CC BY-NC 4.0

Published Online: 18-06-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Kartagener syndrome (KS) is a rare autosomal recessive genetic disorder characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. This case series presents three unique cases of this rare entity—a middle-aged man with secondary spontaneous pneumothorax, a case of a young female with infertility, and a third of an infertile middle-aged female with type 2 respiratory failure. We also highlight the importance of KS with varied clinical presentation, diagnostic challenges, and management strategies in different patients.

PDF Share
  1. Leigh MW, Pittman JE, Carson JL, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009;11(7):473–487. DOI: 10.1097/GIM.0b013e3181a53562
  2. Mishra M, Kumar N, Jaiswal A, et al. Kartagener's syndrome: a case series. Lung India 2012;29(4):366–369. DOI: 10.4103/0970-2113.102831
  3. Kennedy MP, Noone PG, Leigh MW, et al. High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol 2007;188(5):1232–1238. DOI: 10.2214/AJR.06.0965
  4. Leel M, Abid M, Fatima K, et al. Managing Kartagener's syndrome with type ii respiratory failure and left-sided pneumothorax during the COVID-19 pandemic: a case report. Cureus 2023;15(9):e44632. DOI: 10.7759/cureus.44632
  5. Shapiro AJ, Leigh MW, Carson JL, et al. A diagnostic test for primary ciliary dyskinesia: detection of ciliary dyskinesia/immotility in ciliated cells in nasal epithelium. Am J Respir Crit Care Med 2005;171(5):488–496. DOI: 10.1164/rccm.200409-1205OC
  6. Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J 2017;49(1):1601090. DOI: 10.1183/13993003.01090-2016
  7. Kuehni CE, Frischer T, Strippoli MPF, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010;36(6):1248–1258. DOI: 10.1183/09031936.00001010
  8. Cakmak A, Inal-Ince D, Sonbahar-Ulu H, et al. Aerobic exercise training in Kartagener's syndrome: case report. J Exerc Rehabil 2019;15(3):468–471. DOI: 10.12965/jer.1938144.072
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.