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Table 1 Clinical presentation of 6 Chinese children with SFTPC mutations

From: Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations

Patient Female/Male Age at onset Symptoms Assisted ventilation Radiology Failure to thrive Other Outcome
1 F 2 m Chronic cough
Tachypnea
Cyanosis
Invasive mechanical ventilation for 1 week
Home oxygen therapy at 1.5-2 L·min− 1 for 3y
Ground-glass opacity, Interstitial changes Yes Clubbed-finger, chest deformity, PH, RCE, laryngomalacia Alive at 5.5y
2 F 15 m Chronic cough
Tachypnea
Cyanosis
Respiratory failure
Invasive mechanical ventilation for 6 m at ICU Bilateral diffuse infiltration, Cyst-like lesions, and Chronic pulmonary fibrosis No TSH elevation Deceased at 22 m
3 F 7d Chronic cough
Tachypnea
Home oxygen(1 L·min− 1) for 15 m and intermittent flow for 4 m Bilateral diffuse infiltration, Ground-glass opacity Yes Moderate malnutrition Alive at 3y
4 M 2 m Tachypnea Supplemental oxygen with low flow (1 L·min-1) and intermittent high flow for 6m Bilateral diffuse infiltration, and interstitial changes Yes Severe malnutrition
Pectus excavatum
Deceased at 8m
5 M 7m Chronic cough
Tachypnea
Nasal oxygen (0.5-1 L·min-1) for 8m Ground-glass opacity
Interstitial changes
Yes Severe malnutrition Alive at 2y
6 M 3m Tachypnea
Cyanosis
Mask oxygen (3.5-4 L·min-1) for 27m Lung transmittance significantly reduced, Diffuse ground-glass opacity, Scattered subpleural cyst Yes Pectus excavatum deformity, Depression in the lower sternum, Moderate malnutrition Alive at 30m
  1. PH Pulmonary hypertension, RCE right cardiac enlargement