Premium
Cystic fibrosis in Turkey: First data from the national registry
Author(s) -
Dogru Deniz,
Çakır Erkan,
Şişmanlar Tuğba,
Çobanoğlu Nazan,
Pekcan Sevgi,
Cinel Güzin,
Yalçın Ebru,
Kiper Nural,
Şen Velat,
S. Şen Hadice,
Ercan Ömür,
Keskin Özlem,
B. Eltan Sevgi,
Al Shadfan Lina M.,
Yazan Hakan,
Altıntaş Derya U.,
Şaşihüseyinoğlu Şenay,
Sapan Nihat,
Çekiç Şükrü,
Çokuğraş Haluk,
A. Kılınç Ayşe,
R. Gürsoy Tuğba,
Aslan Ayşe T.,
Bingöl Ayşen,
Başaran Abdurrahman E.,
Özdemir Ali,
Köse Mehmet,
Hangül Melih,
Emiralioğlu Nagehan,
Tuğcu Gökçen,
Yüksel Hasan,
Yılmaz Özge,
Orhan Fazıl,
Gayretli Aydın Zeynep G.,
Topal Erdem,
Tamay Zeynep,
Süleyman Ayşe,
Can Demet,
Bal Cem M.,
Çaltepe Gönül,
Özçelik Uğur
Publication year - 2020
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.24561
Subject(s) - medicine , meconium ileus , cystic fibrosis , patient registry , genotyping , pediatrics , meconium , genotype , pregnancy , fetus , biochemistry , genetics , chemistry , gene , biology
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.