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Table 3 Therapy and follow-up of 6 patients with SFTPC mutations

From: Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C 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)
  1. HCQ Hydroxychloroquine