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[Clinical manifestations of three cases of surfactant protein C p. V39L mutation].

Objective: To investigate the clinical manifestations of surfactant protein C gene (SFTPC) exon-2 c. 115G>G/T (p.V39L). Method: Patients were screened for the entire coding sequence of SFTPC. Three cases from three children's hospital with mutation in p. V39L were reported. Result: All the three cases were females. The age of onset ranged from 2 months to 7 years. Two cases had recurrent lower respiratory tract infection and failed to thrive. One had chronic anoxia and clubbing fingers. Chest computed tomography (CT) showed diffused ground glass pattern, localized emphysema and intralobular septal thickening. In one case, early sign of cyst formation was also shown on CT. Two were lost to follow-up after alleviation of acute respiratory infection. One was treated with oral low-dose azithromycin and nebulized budesonide and terbutaline. She had recurrent lower respiratory tract infection in more than one year of follow-up. Conclusion: Mutations in SFTPC p. V39L cause interstitial lung diseases. Clinical manifestations included recurrent respiratory tract infections, chronic lung disease. Chest CT showing diffused ground glass pattern, localized emphysema, intralobular septal thickening and early sign of cyst formation. The treatment and prognosis need further study.