A Case Report on Kartagener Syndrome or Primary Ciliary Dyskinesia – A Rare Genetic Disorder of Ciliary Motility

Kartagener syndrome (KS) is a rare genetic disorder of autosomal recessive inheritance which is manifested by the classical triad of bronchiectasis, chronic sinusitis, and situs inversus along with infertility in males and reduced fertility in females due to impaired or defective ciliary movement and comes under the types of primary ciliary dyskinesia (PCD). This study aims to contribute to the incidence of Kartagener syndrome by reporting this rare genetic disorder. We enlighten a case of a 65-year-old female, a resident of Aligarh, U.P., India, who presented with recurrent episodes of exacerbation of chest infection and sinusitis. After evaluating the patient through history, general physical, systemic examination, and investigation we found the classical triad of bronchiectasis, situs inversus, and chronic sinusitis, and diagnosed the case as Kartagener syndrome. Reporting such cases in a given geographical area helps in the diagnosis of such rare diseases, as one can keep them in the differentials of recurrent chest infections. Early diagnosis of such disorders prevents patients as well as the health care system from the unnecessary burden of repeated investigation and helps in better outcomes and may result in improved quality of life.

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Publication Details

Journal
International Journal of Current Microbiology and Applied Sciences
Published
2025-01-10
DOI
https://doi.org/10.20546/ijcmas.2025.1401.009
Primary Topic
Cystic Fibrosis Research Advances
Type
article
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article

A Case Report on Kartagener Syndrome or Primary Ciliary Dyskinesia – A Rare Genetic Disorder of Ciliary Motility

Tasawar Hayat, Mohd Mushfiq, Jamal Azmat
International Journal of Current Microbiology and Applied Sciences
Cystic Fibrosis Research Advances
article

A Case Report on Kartagener Syndrome or Primary Ciliary Dyskinesia – A Rare Genetic Disorder of Ciliary Motility

Tasawar Hayat, Mohd Mushfiq, Jamal Azmat
article en

Abstract

Kartagener syndrome (KS) is a rare genetic disorder of autosomal recessive inheritance which is manifested by the classical triad of bronchiectasis, chronic sinusitis, and situs inversus along with infertility in males and reduced fertility in females due to impaired or defective ciliary movement and comes under the types of primary ciliary dyskinesia (PCD). This study aims to contribute to the incidence of Kartagener syndrome by reporting this rare genetic disorder. We enlighten a case of a 65-year-old female, a resident of Aligarh, U.P., India, who presented with recurrent episodes of exacerbation of chest infection and sinusitis. After evaluating the patient through history, general physical, systemic examination, and investigation we found the classical triad of bronchiectasis, situs inversus, and chronic sinusitis, and diagnosed the case as Kartagener syndrome. Reporting such cases in a given geographical area helps in the diagnosis of such rare diseases, as one can keep them in the differentials of recurrent chest infections. Early diagnosis of such disorders prevents patients as well as the health care system from the unnecessary burden of repeated investigation and helps in better outcomes and may result in improved quality of life.

International Journal of Current Microbiology and Applied SciencesVol. 14(1)
Openalex Percentile: Top 89%
Cystic Fibrosis Research Advances
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A Case Report on Kartagener Syndrome or Primary Ciliary Dyskinesia – A Rare Genetic Disorder of Ciliary Motility — Tasawar Hayat, Mohd Mushfiq, et al. · International Journal of Current Microbiology and Applied Sciences (2025) | TGRS Research Map | TGRS