The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016
| Autor: | Deniz Güney, Tuba Esra Şahlar, Mustafa Kendirci, Melih Hangül, Deniz Acıcan, Sevgi Pekcan, Mehmet Köse, Fatma Göçlü, Murat Faik Erdogan, Ömür Ercan, Hasan Öznavruz, Osman Demir |
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| Přispěvatelé: | Gaziosmanpaşa Üniversitesi, 0-Belirlenecek, Selçuk Üniversitesi, Tıp Fakültesi, Öznavruz, Hasan |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Temel Sağlık Hizmetleri Cystic Fibrosis Turkey Compound heterozygosity Cystic fibrosis Central region Klinik Nöroloji 03 medical and health sciences Neonatal Screening 0302 clinical medicine Study methods middle Anatolia Humans Medicine Genetic Testing Registries Sağlık Bilimleri ve Hizmetleri Sweat Genel ve Dahili Tıp Retrospective Studies Cerrahi Newborn screening newborn screening business.industry Incidence Incidence (epidemiology) Infant Newborn Infant Tıbbi Araştırmalar Deneysel General Medicine Tıbbi İnformatik medicine.disease Cross-Sectional Studies Chronic disease 030228 respiratory system Female Original Article business 030215 immunology |
| Zdroj: | Balkan Medical Journal |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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