The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016

Twenty-one different gene variants were detected and the most common mutation was F508del (17/30)Conclusion: We found the incidence of cystic fibrosis in central Anatolia similar to northern European countries.

📌 3 Key Takeaways

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Objective & Hypothesis:Background: Cystic fibrosis is the most common metabolic chronic disease among European Caucasian children.

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Key Findings & Data:Cystic fibrosis incidence in Northern Europeans countries is approximately 1 in 3000 births while the worldwide prevalence varies considerably.Aims: To determine the incidence of cystic fibrosis in the central region of Anatolia in Turkey using the newborn screening program data.Study Design: Cross-sectional study.Methods: We used the records of the newborn screening program which is implemented by the Konya and Kayseri Provincial Health Directories.

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Conclusion & Impact:Twenty-one different gene variants were detected and the most common mutation was F508del (17/30)Conclusion: We found the incidence of cystic fibrosis in central Anatolia similar to northern European countries.

🔬Design:Research Article

📍Scope:2015 Verileri

⚙️Variables:Domain Parameters

Abstract

Background: Cystic fibrosis is the most common metabolic chronic disease among European Caucasian children. Cystic fibrosis incidence in Northern Europeans countries is approximately 1 in 3000 births while the worldwide prevalence varies considerably.Aims: To determine the incidence of cystic fibrosis in the central region of Anatolia in Turkey using the newborn screening program data.Study Design: Cross-sectional study.Methods: We used the records of the newborn screening program which is implemented by the Konya and Kayseri Provincial Health Directories. Between January 2015 and December 2016, there were a total of 119006 live births in Konya and Kayseri. The newborn screening test was applied to all these babies.Results: During this period, there were 22 live born babies diagnosed with cystic fibrosis in Konya with an incidence of 2.9 per 10000 live births and 13 live born babies diagnosed with cystic fibrosis in Kayseri with an incidence of 2.8 per 10000 live births. In genetic of 30 patients, fifteen patients were homozygous, and 15 patients were a compound heterozygote. Twenty-one different gene variants were detected and the most common mutation was F508del (17/30)Conclusion: We found the incidence of cystic fibrosis in central Anatolia similar to northern European countries.

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Cite This Article

ERDOĞAN, M., HANGÜL, M., ERCAN, Ö., KÖSE, M., KENDİRCİ, M., ŞAHLAR, T. E., GÖÇLÜ, F., ACICAN, D., ÖZNAVRUZ, H., DEMİR, O., PEKCAN, S., GÜNEY, D. (2022). The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Medical Journal, Cilt: 36 - Sayı: 3, 179–183. https://ajindex.com/articles/460979

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References (13)

Kose M, Pekcan S, Kiper N, Aslan AT, Cobanoglu N, Yalcin E, et al. Doll-like face: is it an underestimated clinical presentation of cystic fibrosis? Pediatr Pulmonol 2008;43:634-7.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-96.
Rogan MP, Stoltz DA, Hornick DB. Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment. Chest 2011;139:1480-90.
Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998;132:255-9. Farrell PM. The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 2008;7:450-3.
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr 2017;181:4-15.
Accurso FJ, Sontag MK, Wagener JS. Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr 2005;147(3 Suppl):37-41.
Farrell PM, Kosorok MR, Rock MJ, Laxova A, Zeng L, Lai HC, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 2001;107:1-13.
Gürson CT, Sertel H, Gürkan M, Pala S. Newborn screening for cystic fibrosis with the chloride electrode and neutron activation analysis. Helv Paediatr Acta 1973;28:165-74.
Walters S, Mehta A. Epidemiology of cystic fibrosis. In: Hodson M, Geddes DM, Bush A, editors. Cystic fibrosis, 3rd ed. London: Edward Arnold Ltd; 2007:21-45.
Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Ohtsuka Y. The estimated incidence of cystic fibrosis in Japan. J Pediatr Gastroenterol Nutr 1997;24:544-7. Cinel G. Ter testi. İçinde: Arslan AT, Kıper N, editörler. Çocuk göğüs hastalıklarında tanı yöntemleri 1st ed. İstanbul: Probiz Ltd; 2016:118-24.
Beauchamp M, Lands LC. Sweat-testing: a review of current technical requirements. Pediatr Pulmonol 2005;39:507-11.
Massie RJ, Olsen M, Glazner J, Robertson CF, Francis I. Newborn screening for cystic fibrosis in Victoria: 10 years' experience. Med J Aust 2000;172:584-7.
Munck A, Dhondt JL, Sahler C, Roussey M. Implementation of the French nationwide cystic fibrosis newbor