| SFTPB | SFTPC | ABCA3 | NKX2-1/TTF1 |
Mode of inheritance | | - Autosomal dominant, de novo
| | - Autosomal dominant, de novo
|
Pulmonary presentations | - Neonatal respiratory distress syndrome
| - Childhood interstitial lung disease
- Adult interstitial lung disease
- Neonatal respiratory distress syndrome
| - Neonatal respiratory distress syndrome
- Childhood interstitial lung disease
| - Neonatal respiratory distress syndrome
- Childhood interstitial lung disease
- Recurrent infection
- No pulmonary involvement
|
Course | | - Highly variable
- Improvement after critical illness in infancy possible[1,2]
- Onset of symptoms and survival well into adulthood possible
| - Neonatal lethal
- Variable severity in childhood
| - Neonatal lethal
- Variable severity in childhood
|
Treatment options described in literature | - Supportive
- Lung transplant[3,4]
| - Supportive[1]
- Corticosteroids[5,6]
- Hydroxychloroquine[5,6]
- Azithromycin[5]
- Lung transplant[4]
| - Supportive
- Corticosteroids[7]
- Hydroxychloroquine[7,8]
- Lung transplant[9,10]
| |