[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.目的： 探讨肺表面活性物质蛋白(SP)蛋白C基因p.V39L(SP-C p．V39L)突变患儿的临床特点。 方法： 分析3家医院就诊的3例SP-C p．V39L突变患儿的病例资料的临床特点。 结果： 3例患儿均为女性，发病年龄2月龄～7岁。临床表现2例反复下呼吸道感染，生长发育落后；1例慢性缺氧、杵状指。肺部CT均提示肺间质疾病，表现为弥漫性磨玻璃影，伴区域性过度通气、小叶间隔增厚，1例可见囊状影。2例急性感染好转后自动出院，失访；1例阿奇霉素口服，布地奈德、特布他林雾化治疗随访1年余仍有反复呼吸道感染。 结论： SP-C p．V39L突变可引起肺间质疾病，临床表现为反复呼吸道感染或慢性咳嗽、缺氧等慢性肺疾病；肺部CT表现弥漫性磨玻璃影，伴区域性过度通气、小叶间隔增厚，可有囊状影；治疗和预后有待进一步研究。.