Congenital Surfactant C Deficiency with Pulmonary Hypertension-A Case Report.
Wei Chard ChuaI-Chen ChenYi-Ching LiuYen-Hsien WuShih-Hsing LoJong-Hau HsuPeir-In LiangHsiu-Lin ChenZen-Kong DaiPublished in: Children (Basel, Switzerland) (2022)
Interstitial lung diseases in children are a diverse group in terms of etiology and pathogenesis. With advances in genetic testing, mutations in surfactant protein have now been identified as the etiology for childhood interstitial lung disease of variable onset and severity, ranging from fatal acute respiratory distress syndrome (RDS) in neonates to chronic lung disease in adults. We presented an 11-month-old girl with surfactant protein C deficiency and secondary pulmonary hypertension, successfully treated with hydroxychloroquine, and provided a detailed discussion of the clinical and diagnostic approach and management.
Keyphrases
- pulmonary hypertension
- acute respiratory distress syndrome
- interstitial lung disease
- systemic sclerosis
- extracorporeal membrane oxygenation
- pulmonary artery
- mechanical ventilation
- pulmonary arterial hypertension
- protein protein
- rheumatoid arthritis
- idiopathic pulmonary fibrosis
- young adults
- binding protein
- amino acid
- replacement therapy
- coronary artery
- small molecule