RT Journal Article
SR Electronic
T1 Clinical features of surfactant metabolism disorders in children
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 3528
DO 10.1183/13993003.congress-2020.3528
VO 56
IS suppl 64
A1 Ramasli Gursoy, Tugba
A1 Onay, Zeynep Reyhan
A1 Asfuroglu, Pelin
A1 Sismanlar Eyüboglu, Tugba
A1 Aslan, Ayse Tana
YR 2020
UL http://erj.ersjournals.com/content/56/suppl_64/3528.abstract
AB Objective: Surfactant metabolism disorders (SMD) is a specific group of childhood interstitial lung diseases (chILD) with severe morbidity and mortality and usually start in early childhood. We aimed to evaluate the clinical features and treatment modalities of patients diagnosed with SMD in a pediatric pulmonology department.Method: Between 2012-2019, all patients who were followed up with the diagnosis of SMD were evaluated. Patients' age, complaints, diagnosis and diagnostic methods and given treatments were noted.Results: A total of six patients were followed with the diagnoses of SMD. The mean age of patients at admission was 6.3±4.5 (min 0.5-max 11) years. The mean follow-up duration was 3.1±2.7 years. Two of the patients had respiratory distress and tachypnea in infancy, and four of them had recurrent pneumonia in childhood. One patient was diagnosed as surfactant protein C deficiency (SFTPC) and one patient was diagnosed as brain-lung-thyroid disease with genetic analysis. One patient was diagnosed as alveolar microlithiasis with lung biopsy. Two siblings were diagnosed as pulmonary alveolar proteinosis with bronchoalveolar lavage (BAL) and thorax CT findings. One of the patients is thought to have SMD with results of thorax CT, BAL results, although no mutation was found in SMD genes yet. Steroid was given in the last patient and steroid, hydroxychloroquine and azithromycin treatments were given to the patient with SFTPC mutation. Other patients were followed without any treatment.Conclusions: SMD are very rare and have different clinical spectrum in childhood. Thorax CT, genetic testing, BAL or lung biopsy may be guiding for diagnosis. Treatment should be planned specifically for each patient.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 3528.This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).