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

Table 1 Clinical presentation of 6 Chinese children with SFTPC 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

ISSN: 1824-7288