Interstitial lung disease in children: ultra-rare genetic variants from national registry of Türkiye
Bildiriler > Özet Bildiri
Yazarlar: Satı Özkan Tabakçı, Şule Selin Akyan Soydaş, Gökçen Dilşa Tuğcu, Güzin Cinel, Ayşe Ceren Sağdıç, Uğur Özçelik, Sinem Can Oksay, Çiğdem Korkmaz, Fazılcan Zirek, Handan Kekeç, Figen GÜLEN, Melih Hangül, Beste Özsezen, Derya Ufuk Altıntaş, Hanife Tuğçe Çağlar, A. Erdem Başaran, Zeynep Seda Uyan, Ali Özdemir, Tuğba Ramaslı Gürsoy, Ebru Yalçın, Nagehan Emiralioğlu, Saniye Girit, Ayşe Ayzıt Kılınç, Nazan Çobanoğlu, Tuğba Şişmanlar Eyüboğlu, Sevgi Pekcan, Yasemin Gökdemir, Berna Oğuz, Diclehan Orhan, Ahmet Cevdet Ceylan, Dilber Ademhan Tural, Nural Kiper
Paediatric rare lung and airway disease, , , Uluslararası, Özet Bildiri, ss PA3819-PA3819
DOI: 10.1183/13993003.congress-2025.pa3819
Özet
Objective: The advancement of genetic analysis techniques has led to identifying novel genetic entities in children’s interstitial lung disease(chILD). We aimed to showcase diverse demographic, clinical, radiological, and laboratory data regarding these ultra-rare genetic variants in chILD via a national registry. Method: We analyzed data from the chILD-Türkiye registry, focusing on ultra-rare genetic chILD subtypes. Of the 671 patients,182 underwent genetic analysis,44 with ultra-rare genetic variants included in the study with their demographic and clinical data. Results: Of the patients,23(52.3%) were female. The median gestational age was 38.5 weeks(IQR 37.2-40);5(11.4%) had been on a mechanical ventilator in the neonatal intensive care unit,30(68.2%) had familial consanguinity,25(56.8%) had systemic disease. All patients had chest CT scans during their initial assessment, showing ground-glass opacities in 34 patients(77.3%), infiltrations in 31(70.5%), and interlobular septal thickening in 23(52.3%). The genetic analysis conducted on 11 patients had variations in the COPA, STAT3, STING1, ADA, ZNFX1, PIK3CD, PLCG2, and ATM genes, which are linked to immunodeficiency/immune dysregulation;11 had variations in NPC1, A1, SLC7A7 genes which are linked to inborn errors of metabolism. Variations were found in genes CCR2, TBX4, OAS1, TERT, MARS1, FARSB, SLC34A2, RTEL1, PLG, MUC5B, RNF168, PEPD, and SMAD4 in 22 patients. Thirteen patients (29.5%) received oral, and 9(20.4%) pulse steroids in addition to their primary treatments for systemic diseases. Conclusions: ChILD is rare in children, but increased genetic analysis can enable earlier diagnosis. Recognizing chILD may occur in rare systemic diseases can improve outcomes.