Clinical features of surfactant metabolism disorders in children

Abstract

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.