Nelson Textbook of Pediatrics 22nd Edition | Surfactant dysfunction disorders: SFTPB (lethal without transplant), SFTPC (variable, gain-of-function), ABCA3 (variable), NKX2-1 (brain-thyroid-lung syndrome). Pulmonary alveolar proteinosis (PAP): autoimmune (anti-GM-CSF antibodies) or genetic (CSF2RA/B mutations). Clinical: neonatal respiratory distress, chronic tachypnea, hypoxemia, failure to thrive. Diagnosis: HRCT (ground-glass, crazy-paving), genetic testing, lung biopsy (alveolar proteinosis, lamellar body abnormalities). Treatment: supportive, hydroxychloroquine (surfactant disorders), whole lung lavage (PAP), inhaled GM-CSF (autoimmune PAP), lung transplantation.
๐ paeds.online โ Pakistan's Pediatric Platform| Disease | Key Genetic Findings | Treatment |
|---|---|---|
| SFTPB deficiency | Autosomal recessive, frameshift mutation (121ins2) | Lung transplantation (lethal without transplant) |
| SFTPC deficiency | Autosomal dominant, gain-of-function (I73T common) | Hydroxychloroquine, azithromycin, supportive, lung transplant if progressive |
| ABCA3 deficiency | Autosomal recessive, variable severity | Hydroxychloroquine, supportive, lung transplant for severe |
| NKX2-1 (brain-thyroid-lung) | Hypothyroidism, chorea, lung disease | Thyroid hormone replacement, supportive, hydroxychloroquine for lung |
| PAP (autoimmune) | Anti-GM-CSF antibodies | Whole lung lavage, inhaled GM-CSF |
| PAP (genetic) | CSF2RA, CSF2RB mutations (GM-CSF receptor) | Whole lung lavage, hematopoietic stem cell transplant |