An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region

Abstract

Background Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. Case presentation A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction. Conclusion We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency.