SFTPB | SFTPC | ABCA3 | NKX2-1/TTF1 | |
Mode of inheritance | Autosomal recessive | Autosomal dominant, de novo | Autosomal recessive | 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 | Neonatal lethal | Highly variable Survival until 6th decade reported | Neonatal lethal Variable severity in childhood | Neonatal lethal Variable severity in childhood |
Treatment options described in literature | Supportive Lung transplant[1,2] | Supportive[3] Corticosteroids[4,5] Hydroxychloroquine[4,5] Azithromycin[4] Lung transplant[2] | Supportive Corticosteroids[6] Hydroxychloroquine[6,7] Lung transplant[8,9] | Supportive |
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