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. 1. Department of Pediatrics, Division of Pediatric Pulmonology, Erciyes University School of Medicine, Kayseri, Turkey 2. Department of Pediatrics, Division of Pediatric Pulmonology, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey 3. Department of Child and Adolescent, Public Health General Directorate, Ankara, Turkey 4. Konya Provincial Public Health Directorate, Konya, Turkey 5. Clinic of Genetics, Kayseri City Hospital, Kayseri, Turkey 6. Departman of Pediatrics, Division of Pediatric Nutrition and Metabolism, Erciyes University School of Medicine, Kayseri, Turkey 7. Kayseri Provincial Public Health Directorate, Kayseri, Turkey
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.
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.
Authors: T Onay; J Zielenski; O Topaloglu; N Gokgoz; H Kayserili; M Y Apak; Y Camcioglu; H Cokugras; N Akcakaya; L C Tsui; B Kirdar Journal: Hum Biol Date: 2001-04 Impact factor: 0.553
Authors: P M Farrell; M R Kosorok; M J Rock; A Laxova; L Zeng; H C Lai; G Hoffman; R H Laessig; M L Splaingard Journal: Pediatrics Date: 2001-01 Impact factor: 7.124
Authors: E H Mischler; B S Wilfond; N Fost; A Laxova; C Reiser; C M Sauer; L M Makholm; G Shen; L Feenan; C McCarthy; P M Farrell Journal: Pediatrics Date: 1998-07 Impact factor: 7.124
Authors: Carlo Castellani; Kevin W Southern; Keith Brownlee; Jeannette Dankert Roelse; Alistair Duff; Michael Farrell; Anil Mehta; Anne Munck; Rodney Pollitt; Isabelle Sermet-Gaudelus; Bridget Wilcken; Manfred Ballmann; Carlo Corbetta; Isabelle de Monestrol; Philip Farrell; Maria Feilcke; Claude Férec; Silvia Gartner; Kevin Gaskin; Jutta Hammermann; Nataliya Kashirskaya; Gerard Loeber; Milan Macek; Gita Mehta; Andreas Reiman; Paolo Rizzotti; Alec Sammon; Dorota Sands; Alan Smyth; Olaf Sommerburg; Toni Torresani; Georges Travert; Annette Vernooij; Stuart Elborn Journal: J Cyst Fibros Date: 2009-02-26 Impact factor: 5.482