Kartagener’s syndrome in an adolescent male: A case report and review of literature

Author:

Chirag Ravi1,Rasuri Arun Jayendra1,Arun Babu Thirunavukkarasu1

Affiliation:

1. Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India,

Abstract

Kartagener’s syndrome (KS) is a rare autosomal recessive genetic condition causing disruption to ciliary movement, leading to the triad of sinusitis, situs inversus, and bronchiectasis. Mutations in genes such as DNAI1 and DNAH5 increase susceptibility to recurrent sinopulmonary infections, infertility and errors with the left-right body orientation. A teenage boy with a decade-long history of sinusitis, chronic cough and ear infections showed bronchiectasis and situs inversus in clinical and imaging examinations. He had a neonatal intensive care unit stay for 1 month due to respiratory distress at birth, where dextrocardia was noted. Treatment with antibiotics, mucolytics, chest therapy and vaccination improved his symptoms. KS should be considered in newborns with dextrocardia and breathing problems. Genetic counselling and fertility issues should be addressed once KS is diagnosed.

Publisher

Scientific Scholar

Reference13 articles.

1. Kartagener syndrome: A case report;Najafi;Asian J Pharm Clin Res,2018

2. Evidence for congenitaly nonfunctioning cilia in the tracheobronchial tract in two subjects;Camner;Am Rev Respir dis,1975

3. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia;Chilvers;J Allergy Clin Immunol,2003

4. PICADAR: A diagnostic predictive tool for primary ciliary dyskinesia;Behan;Eur Respir J,2016

5. Primary ciliary dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity;Blouin;Eur J Hum Genet,2000

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