Cystic fibrosis in Turkey: First data from the national registry
Corresponding Author
Deniz Dogru MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Correspondence Deniz Dogru, MD, Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Sihhiye, 06100 Ankara, Turkey.
Email: [email protected]
Search for more papers by this authorErkan Çakır MD
Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey
Search for more papers by this authorTuğba Şişmanlar MD
Division of Pediatric Pulmonology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey
Search for more papers by this authorNazan Çobanoğlu MD
Division of Pediatric Pulmonology, Faculty of Medicine, Ankara University, Ankara, Turkey
Search for more papers by this authorSevgi Pekcan MD
Division of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey
Search for more papers by this authorGüzin Cinel MD
Division of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey
Search for more papers by this authorEbru Yalçın MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Search for more papers by this authorNural Kiper MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Search for more papers by this authorVelat Şen MD
Division of Pediatric Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey
Search for more papers by this authorHadice S. Şen MD
Department of Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey
Search for more papers by this authorÖmür Ercan NP
Division of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey
Search for more papers by this authorÖzlem Keskin MD
Division of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Search for more papers by this authorSevgi B. Eltan MD
Division of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Search for more papers by this authorLina M. Al Shadfan MD
Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey
Search for more papers by this authorHakan Yazan MD
Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey
Search for more papers by this authorDerya U. Altıntaş MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey
Search for more papers by this authorŞenay Şaşihüseyinoğlu MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey
Search for more papers by this authorNihat Sapan MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey
Search for more papers by this authorŞükrü Çekiç MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey
Search for more papers by this authorHaluk Çokuğraş MD
Division of Pediatric Allergy and Pulmonology, Cerrahpaşa Medicine Faculty, Istanbul University, Istanbul, Turkey
Search for more papers by this authorAyşe A. Kılınç MD
Division of Pediatric Allergy and Pulmonology, Cerrahpaşa Medicine Faculty, Istanbul University, Istanbul, Turkey
Search for more papers by this authorTuğba R. Gürsoy MD
Division of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey
Search for more papers by this authorAyşe T. Aslan MD
Division of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey
Search for more papers by this authorAyşen Bingöl MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
Search for more papers by this authorAbdurrahman E. Başaran MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
Search for more papers by this authorAli Özdemir MD
Division of Pediatric Pulmonology, Mersin City Training and Research Hospital, Mersin, Turkey
Search for more papers by this authorMehmet Köse MD
Division of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Search for more papers by this authorMelih Hangül MD
Division of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Search for more papers by this authorNagehan Emiralioğlu MD
Division of Pediatric Pulmonology, Gaziantep Cengiz Gökçek Maternity and Children Hospital, Gaziantep, Turkey
Search for more papers by this authorGökçen Tuğcu MD
Division of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey
Search for more papers by this authorHasan Yüksel MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey
Search for more papers by this authorÖzge Yılmaz MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey
Search for more papers by this authorFazıl Orhan MD
Division of Pediatric Allergy, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Search for more papers by this authorZeynep G. Gayretli Aydın MD
Division of Pediatric Infectious Disease, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Search for more papers by this authorErdem Topal MD
Division of Pediatric Allergy, Faculty of Medicine, İnönü University, Malatya, Turkey
Search for more papers by this authorZeynep Tamay MD
Division of Pediatric Allergy, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Search for more papers by this authorAyşe Süleyman MD
Division of Pediatric Allergy, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Search for more papers by this authorDemet Can MD
Division of Pediatric Pulmonology, Faculty of Medicine, Balıkesir University, Balıkesir, Turkey
Search for more papers by this authorCem M. Bal MD
Division of Pediatric Pulmonology, Atatürk Regional Training and Research Hospital, Erzurum, Turkey
Search for more papers by this authorGönül Çaltepe MD
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey
Search for more papers by this authorUğur Özçelik MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Search for more papers by this authorCorresponding Author
Deniz Dogru MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Correspondence Deniz Dogru, MD, Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Sihhiye, 06100 Ankara, Turkey.
Email: [email protected]
Search for more papers by this authorErkan Çakır MD
Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey
Search for more papers by this authorTuğba Şişmanlar MD
Division of Pediatric Pulmonology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey
Search for more papers by this authorNazan Çobanoğlu MD
Division of Pediatric Pulmonology, Faculty of Medicine, Ankara University, Ankara, Turkey
Search for more papers by this authorSevgi Pekcan MD
Division of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey
Search for more papers by this authorGüzin Cinel MD
Division of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey
Search for more papers by this authorEbru Yalçın MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Search for more papers by this authorNural Kiper MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Search for more papers by this authorVelat Şen MD
Division of Pediatric Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey
Search for more papers by this authorHadice S. Şen MD
Department of Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey
Search for more papers by this authorÖmür Ercan NP
Division of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey
Search for more papers by this authorÖzlem Keskin MD
Division of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Search for more papers by this authorSevgi B. Eltan MD
Division of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Search for more papers by this authorLina M. Al Shadfan MD
Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey
Search for more papers by this authorHakan Yazan MD
Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey
Search for more papers by this authorDerya U. Altıntaş MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey
Search for more papers by this authorŞenay Şaşihüseyinoğlu MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey
Search for more papers by this authorNihat Sapan MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey
Search for more papers by this authorŞükrü Çekiç MD
Division of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey
Search for more papers by this authorHaluk Çokuğraş MD
Division of Pediatric Allergy and Pulmonology, Cerrahpaşa Medicine Faculty, Istanbul University, Istanbul, Turkey
Search for more papers by this authorAyşe A. Kılınç MD
Division of Pediatric Allergy and Pulmonology, Cerrahpaşa Medicine Faculty, Istanbul University, Istanbul, Turkey
Search for more papers by this authorTuğba R. Gürsoy MD
Division of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey
Search for more papers by this authorAyşe T. Aslan MD
Division of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey
Search for more papers by this authorAyşen Bingöl MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
Search for more papers by this authorAbdurrahman E. Başaran MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
Search for more papers by this authorAli Özdemir MD
Division of Pediatric Pulmonology, Mersin City Training and Research Hospital, Mersin, Turkey
Search for more papers by this authorMehmet Köse MD
Division of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Search for more papers by this authorMelih Hangül MD
Division of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Search for more papers by this authorNagehan Emiralioğlu MD
Division of Pediatric Pulmonology, Gaziantep Cengiz Gökçek Maternity and Children Hospital, Gaziantep, Turkey
Search for more papers by this authorGökçen Tuğcu MD
Division of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey
Search for more papers by this authorHasan Yüksel MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey
Search for more papers by this authorÖzge Yılmaz MD
Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey
Search for more papers by this authorFazıl Orhan MD
Division of Pediatric Allergy, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Search for more papers by this authorZeynep G. Gayretli Aydın MD
Division of Pediatric Infectious Disease, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Search for more papers by this authorErdem Topal MD
Division of Pediatric Allergy, Faculty of Medicine, İnönü University, Malatya, Turkey
Search for more papers by this authorZeynep Tamay MD
Division of Pediatric Allergy, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Search for more papers by this authorAyşe Süleyman MD
Division of Pediatric Allergy, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Search for more papers by this authorDemet Can MD
Division of Pediatric Pulmonology, Faculty of Medicine, Balıkesir University, Balıkesir, Turkey
Search for more papers by this authorCem M. Bal MD
Division of Pediatric Pulmonology, Atatürk Regional Training and Research Hospital, Erzurum, Turkey
Search for more papers by this authorGönül Çaltepe MD
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey
Search for more papers by this authorUğur Özçelik MD
Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Search for more papers by this authorThis study was presented as a poster at the 42nd European Cystic Fibrosis Conference in Liverpool, UK, June 5th to 8th, 2019.
Abstract
Background
Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017.
Methods
The data were collected using a data-entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively.
Results
There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo-Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients.
Conclusions
Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.
CONFLICT OF INTERESTS
The authors declare that there are no conflict of interests.
REFERENCES
- 1Fink AK, Loeffler DR, Marshall BC, Goss CH, Morgan WJ. Data that empower: the success and promise of CF patient registries. Pediatr Pulmonol. 2017; 52: S44-S51.
- 2Jackson AD, Goss CH. Epidemiology of CF: how registries can be used to advance our understanding of the CF population. J Cyst Fibros. 2018; 17: 297-305.
- 3Gürson 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: 165-174.
- 4Hangül M, Pekcan S, Köse M, et al. The incidence of cystic fibrosis in central Anatolia region of Turkey in 2015 and 2016. Balkan Med J. 2019; 36: 179-183.
- 5ECFS Patient Registry. https://www.ecfs.eu/ecfspr/. Accessed August 14, 2019.
- 6Miller MR, Hankinson J, Brusasco V, et al. ATS/ERS task force. Standardisation of spirometry. Eur Respir J. 2005; 26: 319-338.
- 7Zapletal A, Paul T, Samanek M. Significance of contemporary methods of lung function testing for the detection of airway obstruction in children and adolescents. Z Erkr Atmungsorgane. 1977; 149: 343-371.
- 8 Centers for Disease Control and Prevention. A SAS program for the 2000 CDC growth charts (ages 0 to <20 years). https://www.cdc.gov/nccdphp/dnpao/growthcharts/resources/sas.htm/. Accessed August 14, 2019.
- 9Turck D, Braegger CP, Colombo C, et al. ESPEN-ESPGHAN-ECFS guidelines on nutrition care for infants, children, and adults with cystic fibrosis. Clin Nutr. 2016; 35: 557-577.
- 10 Turkish Statistical Institute. http://www.turkstat.gov.tr/. Accessed August 14, 2019.
- 11Zolin A, Orenti A, Naehrlich L, et al. ECFSPR Annual Report 2017. 2019.
- 12Gharibzadeh Hizal M, Yalçın E, Eryılmaz S, et al. Newborn screening for CF: first three years experience in Hacettepe University. Eur Respir J. 2018; 52(suppl 62): PA621.
- 13Ahmed NN, Durie PR. Nonpulmonary Manifestations of Cystic Fibrosis. In: RW Wilmott, R Deterding, A Li, F Ratjen, P Sly, HJ Zar, A Bush, eds. Kendig's Disorders of the Respiratory Tract in Children. Philadelphia: Elsevier; 2019: 781-795.
- 14 Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry 2015 Annual Data Report. Bethesda, MD 2016.
- 15Onay T, Topaloglu O, Zielenski J, et al. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet. 1998; 102: 224-230.
- 16Lakeman P, Gille JJ, Dankert-Roelse JE, et al. CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening. Genet Test. 2008; 12: 25-35.
- 17Özgüç M, Tekin A, Erdem H, et al. Analysis of delta F508 mutation in cystic fibrosis pathology specimens. Pediatr Pathol. 1994; 14: 491-496.
- 18Hundrieser J, Bremer S, Peinemann F, et al. Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients. Hum Genet. 1990; 85: 409-410.
- 19Köprübasi FF, Malik N, Bösch-al-Jadooa N, Alkan M, Tanac R, Bühler E. Molecular genetic analysis of Turkish cystic fibrosis patients. Ann Genet. 1993; 36: 144-149.
- 20Yilmaz E, Erdem H, Ozgüç M, et al. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered. 1995; 45: 175-177.
- 21Atag E, Bas Ikizoglu N, Ergenekon AP, et al. Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul. Pediatr Pulmonol. 2019; 54: 743-750.
- 22Çankaya T, Arikan-Ayyildiz Z, Bora E, Uzuner N, Ulgenalp A. Sequencing of the CFTR gene in selected Turkish patients with cystic fibrosis. Minerva Pediatr. 2015; 67: 407-411.
- 23Kintu B, Brightwell A. Episodic seasonal pseudo-Bartter syndrome in cystic fibrosis. Paediatr Respir Rev. 2014; 15(suppl 1): 19-21.
- 24Kose M, Pekcan S, Ozcelik U, et al. An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients. Eur J Pediatr. 2008; 167: 115-116.
- 25Yalcin E, Kiper N, Dogru D, Ozcelik U, Aslan AT. Clinical features and treatment approaches in cystic fibrosis with pseudo-Bartter syndrome. Ann Trop Paediatr. 2005; 25: 119-124.
- 26Dahabren MM, Najada AS. Pseudo-Bartter syndrome, pattern and correlationwith other cystic fibrosis features. Saudi J Kidney Dis Transpl. 2013; 24: 292-296.
- 27Scurati-Manzoni E, Fossali EF, Agostoni C, et al. Electrolyte abnormalities in cystic fibrosis: systematic review of the literature. Pediatr Nephrol. 2014; 29: 1015-1023.
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