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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