Childhood interstitial lung disease in metabolic disorders: prevalence, genotypic and clinical characteristics, and management approaches – an analysis of the chILD-Turkey registry
Bildiriler > Özet Bildiri
Yazarlar: Merve Selçuk Balcı, Fazilcan Zirek, Handan Kekeç, Melih Hangül, Gökçen KARTAL ÖZTÜRK, Burcu Çapraz Yavuz, Gülay Baş Bilgin, Beste Özsezen, Mina Hızal, Azer Kılıç Başkan, Ali Özdemir, Tugba Ramaslı Görsoy, Nazan Çobanoğlu, Tuğba Şişmanlar Eyüboglu, Nagehan Emiralioğlu, Ahmet Cevdet Ceylan, Berna Oğuz, Diclehan Orhan, Ayşe Ayzıt Kılınç, Saniye Girit, Sevgi Pekcan, Güzin Cinel, Ebru Yalçın, Nural Kiper, Yasemin Gökdemir
Paediatric rare lung and airway disease, , , Uluslararası, Özet Bildiri, ss PA3821-PA3821
DOI: 10.1183/13993003.congress-2025.pa3821
Özet
Objective: Childhood interstitial lung disease (chILD) refers to a rare and heterogeneous group of disorders that can arise from genetic or acquired causes. Interstitial lung involvement due to metabolic diseases is a rare but significant condition among chILD cases. Methods: This retrospective descriptive study analyzed data from the chILD-Turkey registry, established in November 2021, including patients registered until August 2024. Results: A total of 28 patients (3.9% of 704 children in the registry) were included, with lysosomal storage diseases (LSDs) accounting for 25 cases (89.3%) and Niemann-Pick disease (NP) being the most common diagnosis (n=16, 57.1%), followed by Gaucher disease (GD) (n=7, 25.0%). The mortality rate during the 3-year follow-up was 10.7% (3/28). Computed tomography (CT) most commonly revealed interlobular septal thickening (n=17, 60.7%). No statistically significant differences in CT findings were observed between symptomatic and asymptomatic patients at the time of diagnosis. The most frequent variant in NP was c.416T>C in SMPD1 (4 patients, 25%), and in GD, c.1448T>C was identified in 4 patients (57.1%). Eight patients (2 NP and 6 GD) received enzyme replacement therapy (ERT). No increase in respiratory support needs was observed under ERT, and one patient showed significant regression in CT findings during follow-up. Conclusion: chILD in metabolic disorders often progresses insidiously, resulting in delayed diagnosis. Screening, and initiating ERT in the early stages of the disease can reduce lung involvement and improve outcomes by lowering morbidity and mortality.