Table 3.
Therapy and follow-up of 6 patients with SFTPC mutations
| Patient | Presentation at onset | Physical development | Management | Long-term treatment of lung disease (method/ starting age/ ending age) | Improvement | Symptoms at last observation (age) |
|---|---|---|---|---|---|---|
| 1 |
Severe pneumonia Respiratory failure |
Normal height Low weight at 7 m (approximate to P3) |
Mechanical ventilation Antibiotics Oral prednisone Montelukast Aminophylline Digoxin, Diuretic |
Home oxygen therapy | Moderate | Exercise tolerance reduction, Tachypnea after strenuous exercise (5y) |
| 2 |
Severe pneumonia Respiratory failure |
Normal weight (P10–25) |
Mechanical ventilation Surfactant Systemic steroids Antibiotics, Diuretic Cardiac stimulant Aminophylline |
Persistent mechanical ventilation at ICU (15 m to 22 m until giving up treatment) | No improvement |
Recurrent pneumothorax Respiratory failure (22 m died) |
| 3 | Pneumonia | Low weight at 9 m (below P3) |
Persistent low flow oxygen therapy Antibiotics |
Family oxygen therapy(7d to 19 m), HCQ(10 mg·kg− 1·d− 1 from 13 m to 36 m at present) | Significant (withdrawal of oxygen and weight rises to normol after 6 m HCQ treatment) | Asymptomatic (3y) |
| 4 |
Severe pneumonia Pectus excavatum |
Low weight at 5 m(below P3) |
High flow and low flow oxygen inhalation Antibiotics Nasal feeding |
Family oxygen therapy (5 m to 8 m), HCQ(10 mg·kg−1·d− 1 last for a month until dead) | No improvement |
Recurrent fever at home Failure to thrive (7 m) Deceased (8 m) |
| 5 | Pneumonia | Low height and low weight at 1y(height below P3, and weight far below P3) |
Persistent low flow oxygen therapy Antibiotics |
Family oxygen therapy (7 m to 15 m), HCQ(10 mg·kg− 1·d− 1 from 11 m to 24 m at present) | Significant (withdrawal of oxygen after 4 m HCQ treatment), and slight weight gain (P3 at 24 m) |
Language retardation Mild dysphagia (24 m) |
| 6 |
Pneumonia Pectus excavatum Repeated diarrhea (food allergy) |
Low weight at 2y (below P3) |
Mask oxygen inhalation Antibiotics Nasal feeding |
Family oxygen therapy (5 m to 27 m), HCQ (5 mg·kg−1·d−1 from 24 m for a month then 10 mg·kg− 1·d− 1 for 5 months at present) | Moderate (Weight gain slightly), Slight decrease in oxygen demand(from initial 3.5–4 L·min− 1 to 3 L·min− 1 at present) |
Increase in food intake Psychomotor retardation (30 m) |
HCQ Hydroxychloroquine