ISSN : 2146-3123
E-ISSN : 2146-3131

The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016
Melih Hangül1, Sevgi Pekcan2, Mehmet Köse1, Deniz Acıcan3, Tuba Esra Şahlar4, Murat Erdoğan5, Mustafa Kendirci6, Deniz Güney7, Hasan Öznavruz4, Osman Demir7, Ömür Ercan2, Fatma Göçlü7
1Department of Pediatrics, Division of Pediatric Pulmonology, Erciyes University School of Medicine, Kayseri, Turkey
2Department of Pediatrics, Division of Pediatric Pulmonology, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey
3Department of Child and Adolescent, Public Health General Directorate, Ankara, Turkey
4Konya Provincial Public Health Directorate, Konya, Turkey
5Clinic of Genetics, Kayseri City Hospital, Kayseri, Turkey
6Departman of Pediatrics, Division of Pediatric Nutrition and Metabolism, Erciyes University School of Medicine, Kayseri, Turkey
7Kayseri Provincial Public Health Directorate, Kayseri, Turkey
DOI : 10.4274/balkanmedj.galenos.2018.2018.1332
Pages : 179-183

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.

Keywords : Cystic fibrosis, incidence, middle Anatolia, newborn screening, Turkey
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