Comparison of newborn screening and modulatory treatment responses in siblings with cystic fibrosis
Bildiriler > Özet Bildiri
Yazarlar: GAMZEGÜL GÖZEN BAYRAMOĞLU, Tugba Sismanlar Eyuboglu, Ayse Tana Aslan, Handan Kekec, Ebru Yalcın, Meltem Yıldız Kayaoglu, Umay Kavgacı, Velat Sen, Berrak Öztosun, Cigdem Korkmaz, Ayse Ayzıt Kılınc, Suat Savas, Hanife Tugce Caglar, Azra Yusa Baykan, Oguz Karcıoglu, Yakup Canıtez, Merve Ozturk, Gökçen KARTAL ÖZTÜRK, Ece Halis, Cansu Altındas, Doruk Gul, Sibel Dogru, Mehmet Kose, Ali Ersoy, Isıl Bilgic, Ali Ozdemir, Demet Polat Yulug, Melih Hangul, Erdi Cagrı Dagdelen, Hulya Anıl, Beste Ozsezen, Tugba Ramaslı Gursoy, Esin Gizem Olgun, Pelin Asfuroglu, Zeynep Gokce Gayretli Aydın, Huseyin Arslan, Sevgi Pekcan, Erkan Cakır, Guzin Cinel, Nagehan Emiralioglu, Ugur Ozcelik, Deniz Dogru Ersoz
Paediatric cystic fibrosis, , , Uluslararası, Özet Bildiri, ss PA1625-PA1625
DOI: 10.1183/13993003.congress-2025.pa1625
Özet
Aim: We aimed to compare the clinical and laboratory features of siblings with cystic fibrosis (CF) registered in the Cystic Fibrosis Registry of Turkiye (CFRT-TR) in 2023, both before and after newborn screening (NBS) and modulatory treatment. Method: Siblings with two or more CF diagnoses were included. A comparison was made based on clinical and laboratory characteristics before and after NBS (before 2015) and modulatory treatment. Results: A total of 240 siblings from 113 families were included (47% female), with a mean age of 9 years. The median age at diagnosis was 0.33 years. Of these, 135 were born before NBS. Among those not receiving modulatory treatment, the mean age of diagnosis for older siblings was (2.97±4.36 years), compared to (1.00±2.29 years) for younger siblings (p<0.001). No significant differences in weight, height, BMI z-scores, colonization status, or FEV1% were found between older and younger siblings (p>0.05), though liver disease was more common in older siblings (p=0.011). Younger siblings diagnosed after NBS were diagnosed earlier (0.59±1.10 years) than older siblings diagnosed before NBS (2.84±4.37 years) (p=0.003). No significant differences in clinical parameters were found between the two groups (p>0.05). No differences were noted in FEV1 changes, growth parameters, colonization status, or complications before and after modulatory treatment between the older and younger siblings. Conclusions: Younger siblings were diagnosed earlier with NBS. Having more than two CF siblings did not affect clinical follow-up. Modulatory treatment improved clinical and laboratory outcomes, consistent with existing CF literature.