Authors :
Dr. Madhumitha Dhanasekaran; Dr. K. Nagarajan
Volume/Issue :
Volume 9 - 2024, Issue 6 - June
Google Scholar :
https://tinyurl.com/22d4847f
Scribd :
https://tinyurl.com/mrxskbf6
DOI :
https://doi.org/10.38124/ijisrt/IJISRT24JUN1524
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
66/M who presented to us with recurrent H/o
lower respiratory tract infections and headache since
childhood.The patient also have a history of taking over
the counter medications rather than consulting a
physician and never been to hospital.When we heard the
apex beat on Right 5 th intercostal space , it arouse
suspicion of dextrocardia and situs inversus which were
then confirmed by imaging investigations. Patient was
then subjected to genetic study which showed mutation of
DNAH5. The rarity of this case is of primary ciliary
dyskinesia with preserved fertility,as in this case the
patient had 5 children
References :
- Skeik N, Jabr FI. Kartagener syndrome. International Journal of General Medicine. 2011 Jan 12:41-2.
- Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Motile ciliopathies. Nature reviews Disease primers. 2020 Sep 17;6(1):77.
- Harrison's Principles of Internal Medicine, 21e Loscalzo J, Fauci A, Kasper D, Hauser S, Longo D, Jameson J. Loscalzo J, & Fauci A, & Kasper D, & Hauser S, & Longo D, & Jameson J(Eds.),Eds. Joseph Loscalzo, et al.
- NICE. Fertility Problems: Assessment and Treatment. 2022. https://www.nice.org.uk/guidance/cg156/chapter/Recommendations (20 January 2022, date last accessed).
- Marafie MJ, Al Suliman IS, Redha AM, Alshati AM.. Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes. Egypt J Med Hum Genet 2015;16:95–99.
- Liu L, Zhou K, Song Y, Liu X.. CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia. Medicine (Baltimore) 2021;100:e28275
- Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J. et al. Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to defects of outer and inner dynein arms. Am J Hum Genet 2018;102:973–984.
66/M who presented to us with recurrent H/o
lower respiratory tract infections and headache since
childhood.The patient also have a history of taking over
the counter medications rather than consulting a
physician and never been to hospital.When we heard the
apex beat on Right 5 th intercostal space , it arouse
suspicion of dextrocardia and situs inversus which were
then confirmed by imaging investigations. Patient was
then subjected to genetic study which showed mutation of
DNAH5. The rarity of this case is of primary ciliary
dyskinesia with preserved fertility,as in this case the
patient had 5 children