Yıl: 2019 Cilt: 36 Sayı: 3 Sayfa Aralığı: 179 - 183 Metin Dili: İngilizce DOI: 10.4274/balkanmedj.galenos.2018.2018.1332 İndeks Tarihi: 20-01-2020

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

Öz:
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.
Anahtar Kelime:

Konular: Tıbbi İnformatik Tıbbi Araştırmalar Deneysel Genel ve Dahili Tıp Klinik Nöroloji Temel Sağlık Hizmetleri Sağlık Bilimleri ve Hizmetleri Cerrahi
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 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 newborn screening program. J Pediatr 2008;153:228-33.
  • Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009;8:153-73.
  • Therrell BL, Hannon WH, Hoffman G, Ojodu J, Farrell PM. Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: challenges in newborn dried blood spot screening. Mol Genet Metab 2012;106:1-6.
  • Massie J, Curnow L, Tzanakos N, Francis I, Robertson CF. Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. Arch Dis Child 2006;91:222-5. Green A, Isherwood D, Pollit R. A laboratory guide to newborn screening in the UK for cystic fibrosis. UK National Screening Committee publication. UK: PHE Publications; 2014:1-48.
  • Tluczek A, Mischler EH, Farrell PM, Fost N, Peterson NM, Carey P, et al. Parents' knowledge of neonatal screening and response to false-positive cystic fibrosis testing. J Dev Behav Pediatr 1992;13:181-6.
  • Mischler EH, Wilfond BS, Fost N, Laxova A, Reiser C, Sauer C, et al. Cystic fibrosis newborn screening: impact on reproductive behavior and implications for genetic counseling. Pediatrics 1998;102:44-52.
  • Yilmaz E, Erdem H, Ozgüç M, Coşkun T, Ozçelik U, Göçmen A, et al. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered 1995;45:175-7.
  • Onay T, Zielenski J, Topaloglu O, Gokgoz N, Kayserili H, Apak MY, et al. Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients. Hum Biol 2001;73:191-203.
  • Schwartz M, Johansen HK, Kock C, Brandt NJ. Frequency of the DF508 mutation on cystic fibrosis chromosomes in Denmark. Hum Genet 1990;85:427-8.
  • McIntosh I, Curtis A, Lorenzo ML, Keston M, Gilfillan AJ, Morris G, et al. The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland. Hum Genet 1990;85:419-20.
  • Novelli G, Gasparini P, Savonia A, Pignatti PF, Sangiuolo F, Dallapiccola B. Polymorphic DNA haplotypes and DF508 deletion in 212 Italian CF families. Hum Genet 1990;85:420-1.
  • Balassopoulou A, Loucopoulos D, Kollia P, Devoto M, Adam G, Arvanitakis S, et al. Cystic fibrosis in Greece: Typing with DNA probes and identification of the common molecular defect. Hum Genet 1990;85:393-4.
  • Alibakhshi R, Zamani M. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients. Iran J Allergy Asthma Immunol 2006;5:3-8.
  • Messaoud T, Verlingue C, Denamur E, Pascaud O, Quéré I, Fattoum S, et al. Distribution of CFTR mutations in CF patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996;4:20-4.
APA Hangul M, PEKCAN S, kose m, ACICAN D, ŞAHLAR T, Erdogan M, Kendirci M, GÜNEY D, ÖZNAVRUZ H, DEMİR O, ERCAN Ö, GÖÇLÜ F (2019). The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. , 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
Chicago Hangul Melih,PEKCAN SEVGI,kose mehmet,ACICAN Deniz,ŞAHLAR Tuba Esra,Erdogan Murat,Kendirci Mustafa,GÜNEY Deniz,ÖZNAVRUZ Hasan,DEMİR Osman,ERCAN Ömür,GÖÇLÜ Fatma The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. (2019): 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
MLA Hangul Melih,PEKCAN SEVGI,kose mehmet,ACICAN Deniz,ŞAHLAR Tuba Esra,Erdogan Murat,Kendirci Mustafa,GÜNEY Deniz,ÖZNAVRUZ Hasan,DEMİR Osman,ERCAN Ömür,GÖÇLÜ Fatma The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. , 2019, ss.179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
AMA Hangul M,PEKCAN S,kose m,ACICAN D,ŞAHLAR T,Erdogan M,Kendirci M,GÜNEY D,ÖZNAVRUZ H,DEMİR O,ERCAN Ö,GÖÇLÜ F The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. . 2019; 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
Vancouver Hangul M,PEKCAN S,kose m,ACICAN D,ŞAHLAR T,Erdogan M,Kendirci M,GÜNEY D,ÖZNAVRUZ H,DEMİR O,ERCAN Ö,GÖÇLÜ F The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. . 2019; 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
IEEE Hangul M,PEKCAN S,kose m,ACICAN D,ŞAHLAR T,Erdogan M,Kendirci M,GÜNEY D,ÖZNAVRUZ H,DEMİR O,ERCAN Ö,GÖÇLÜ F "The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016." , ss.179 - 183, 2019. 10.4274/balkanmedj.galenos.2018.2018.1332
ISNAD Hangul, Melih vd. "The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016". (2019), 179-183. https://doi.org/10.4274/balkanmedj.galenos.2018.2018.1332
APA Hangul M, PEKCAN S, kose m, ACICAN D, ŞAHLAR T, Erdogan M, Kendirci M, GÜNEY D, ÖZNAVRUZ H, DEMİR O, ERCAN Ö, GÖÇLÜ F (2019). The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Medical Journal, 36(3), 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
Chicago Hangul Melih,PEKCAN SEVGI,kose mehmet,ACICAN Deniz,ŞAHLAR Tuba Esra,Erdogan Murat,Kendirci Mustafa,GÜNEY Deniz,ÖZNAVRUZ Hasan,DEMİR Osman,ERCAN Ömür,GÖÇLÜ Fatma The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Medical Journal 36, no.3 (2019): 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
MLA Hangul Melih,PEKCAN SEVGI,kose mehmet,ACICAN Deniz,ŞAHLAR Tuba Esra,Erdogan Murat,Kendirci Mustafa,GÜNEY Deniz,ÖZNAVRUZ Hasan,DEMİR Osman,ERCAN Ömür,GÖÇLÜ Fatma The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Medical Journal, vol.36, no.3, 2019, ss.179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
AMA Hangul M,PEKCAN S,kose m,ACICAN D,ŞAHLAR T,Erdogan M,Kendirci M,GÜNEY D,ÖZNAVRUZ H,DEMİR O,ERCAN Ö,GÖÇLÜ F The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Medical Journal. 2019; 36(3): 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
Vancouver Hangul M,PEKCAN S,kose m,ACICAN D,ŞAHLAR T,Erdogan M,Kendirci M,GÜNEY D,ÖZNAVRUZ H,DEMİR O,ERCAN Ö,GÖÇLÜ F The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Medical Journal. 2019; 36(3): 179 - 183. 10.4274/balkanmedj.galenos.2018.2018.1332
IEEE Hangul M,PEKCAN S,kose m,ACICAN D,ŞAHLAR T,Erdogan M,Kendirci M,GÜNEY D,ÖZNAVRUZ H,DEMİR O,ERCAN Ö,GÖÇLÜ F "The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016." Balkan Medical Journal, 36, ss.179 - 183, 2019. 10.4274/balkanmedj.galenos.2018.2018.1332
ISNAD Hangul, Melih vd. "The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016". Balkan Medical Journal 36/3 (2019), 179-183. https://doi.org/10.4274/balkanmedj.galenos.2018.2018.1332