Articles | Open Access | DOI: https://doi.org/10.37547/tajmspr/Volume07Issue03-07

Family Case of The Clinical Course of Cartagener's Syndrome in Children

Shamsiyeva Eleonora Rinatovna , Associate Professor, Department of Children’s Diseases, Tashkent Medical Academy, Tashkent, Uzbekistan

Abstract

Kartagener's syndrome (KS) is a rare hereditary disease characterized by a triad of symptoms: primary ciliary dyskinesia, situs inversus, and chronic respiratory infections. This article presents a family case of KS in children, emphasizing the clinical features, diagnostic challenges, and management strategies. The study analyzes the genetic aspects, pathophysiology, and progression of the disease in affected siblings. Special attention is given to respiratory complications, recurrent infections, and the impact on the quality of life. Early diagnosis and comprehensive therapeutic approaches, including airway clearance techniques and antibiotic prophylaxis, are crucial for improving long-term outcomes in children with KS.

Keywords

Kartagener syndrome, situs inversus, primary ciliary insufficiency

References

Application of clinical genetics 2017; 10: 67-74. DOI: 10.2147/TACG.S127129

Davis SD, Ferkol TW, Rosenfeld M., Lee H.-S., Dell SD, Sagel SD, Milla C., Zariwala MA, et al. Clinical features of primary ciliary dyskinesia in children by genotype and ultrastructural phenotype. Am J Respir Crit Care Med 2015; 191: 316-324. DOI: 10.1164/rccm.201409-1672OC.

Kozlov, S.I. Hereditary syndromes and medical genetic counseling / N.S. Demikova - M., 2017. - 448 p.

Pediatrics: National guidelines: in 2 volumes. - M., 2019.

Shapiro AJ, Zariwala MA, Fercol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, et al. Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD Foundation consensus recommendations based on a state-of-the-art review. Pediatr Pulmonol 2016; 51(2): 115-132. DOI: 10.1002/ppul.23304

Wallmeier J, Al-Mutairi DA, Chen ST, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, et al. Mutations in CCNO result in a congenital defect of mucociliary clearance with reduced formation of multiple motile cilia. Nat Genet, 2014; 46(6): 646-651. DOI: 10.1038/ng.2961

Article Statistics

Copyright License

Download Citations

How to Cite

Shamsiyeva Eleonora Rinatovna. (2025). Family Case of The Clinical Course of Cartagener’s Syndrome in Children. The American Journal of Medical Sciences and Pharmaceutical Research, 7(03), 43–45. https://doi.org/10.37547/tajmspr/Volume07Issue03-07