Phenotypic Presentation Of a Rare Case Of Kartagener Syndrome
Phenotypic Presentation of Kartagener Syndrome
Keywords:
Bronchiectasis, Kartagener’s Syndrome, Sinusitis, Situs InversusAbstract
Kartagener’s syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad
of situs inversus, chronic sinusitis, and bronchiectasis. The main problem lies in the defective movement of
cilia, leading to recurrent chest infections, upper respiratort tract infections, and infertility. We hereby
report an unusual cases of this rare entity. The need for a high index of suspicion to make an early
diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely
treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided. [Adesh K
Natl J Integr Res Med, 2019; 10(4):86-88]
References
Reference
1. Dixit R, Dixit K, Jindal S, Shah KV. An unusual presentation of immotile cilia syndrome with azoospermia: Case report and literature review. LungIndia 2009;
26:142.
2. Barthwal MS. Kartagener’s syndrome in a fertile male - An uncommon Variant. Lung India 2006; 23:123-5.
3. Afzelius BA, Mossberg B. Immotile cilia. Thorax 1980; 35:401-4.
4. Kay VJ, Irvine DS. Successful in-vitro fertilization pregnancy with spermatozoa from a patient with Kartagener’s syndrome: Case report. Hum Reprod
2000;15:135-8.
5. Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, et al. DNAI2
mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008; 83:547-58.
6.Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, et al . Mutations in DNAH5 cause primary ciliary dyskinesia and randomization Of left-right
asymmetry. Nat Genet 2002; 30:143-4.
7. Afzelius BA, Eliasson R. Male and female infertility problems in the
immotile-cilia syndrome. Eur J Respir Dis Suppl 1983;127:144-7.
1. Dixit R, Dixit K, Jindal S, Shah KV. An unusual presentation of immotile cilia syndrome with azoospermia: Case report and literature review. LungIndia 2009;
26:142.
2. Barthwal MS. Kartagener’s syndrome in a fertile male - An uncommon Variant. Lung India 2006; 23:123-5.
3. Afzelius BA, Mossberg B. Immotile cilia. Thorax 1980; 35:401-4.
4. Kay VJ, Irvine DS. Successful in-vitro fertilization pregnancy with spermatozoa from a patient with Kartagener’s syndrome: Case report. Hum Reprod
2000;15:135-8.
5. Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, et al. DNAI2
mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008; 83:547-58.
6.Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, et al . Mutations in DNAH5 cause primary ciliary dyskinesia and randomization Of left-right
asymmetry. Nat Genet 2002; 30:143-4.
7. Afzelius BA, Eliasson R. Male and female infertility problems in the
immotile-cilia syndrome. Eur J Respir Dis Suppl 1983;127:144-7.
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Published
2019-09-08
How to Cite
Yadav, P., Kumar, A., Gupta, A. K., Gautam, A. K., & Diwakar, P. (2019). Phenotypic Presentation Of a Rare Case Of Kartagener Syndrome: Phenotypic Presentation of Kartagener Syndrome. National Journal of Integrated Research in Medicine, 10(4), 86–88. Retrieved from http://nicpd.ac.in/ojs-/index.php/njirm/article/view/2552
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Case Report
