Abstract:

Objective    To investigate the clinical manifestations and prognosis of surfactant protein C gene c.218T＞C（p.I73T） mutation. Methods    Patients were screened for the entire coding sequence of SFTPC，and two cases who had mutation in p.I73T were followed up，and the clinical features，prognosis and the heredity pedigrees were investigated. The related literatures were also reviewed. Results    Case 1 was male， 23 months old；case 2 was female，11 months old. Both had chronic cough，tachypnea and anoxia，and was delayed in development. Chest computed tomography（CT） showed diffuse ground glass pattern；there was local emphysema and early sign of cyst formation in case 2. Case 1 was treated with prednisone for 6 months，the respiratory symptoms disappeared，but there still was diffuse ground glass pattern and emerging cyst formation in the chest CT. Case 2 received prednisone，but still had tachypnea and anoxia，and was given hydroxychloroquine for two months and alleviated. In heredity pedigree investigation，the father of case 1 had the same mutation，was asymptomatic，but had interstitial focus in chest. Case 2 was sporadic. Conclusion    The interstitial lung disease caused by surfactant protein C gene p. I73T mutation could be hereditary or sporadic，usually the onset being in infant. Clinical manifestations are chronic cough，tachypnea，hypoxia and growth retardation. Chest CT shows diffuse ground glass pattern，local emphysema，or cyst formation. Some have good response to prednisone and prognosis is good，but are different in different cases.

Key words: interstitial lung diseases, pulmonary surfactant-associated proteins, gene, mutation, infant

摘要：

目的    探讨肺表面活性物质蛋白（SP）C基因p.I73T突变的临床特点和转归。方法　分析2015—2016年深圳市儿童医院收治的2例有SPC基因p.I73T突变患儿的临床特点、治疗转归和家系调查资料。并就相关文献进行复习。结果　例1为1岁11个月男性患儿；例2为11个月女性患儿。均表现为慢性咳嗽，伴气促、发绀、生长发育落后， 急性期肺部CT均有弥漫性磨玻璃密度影， 例2可见多发小囊状影和区域性通气过度。例1经泼尼松治疗半年后， 呼吸道症状消失， 1年半后复查肺部CT仍可见少量磨玻璃密度影， 并出现散在囊状影。例2经泼尼松治疗后仍有气促和氧依赖， 加羟氯喹治疗2个月后症状有所好转。2例均为SPC基因c.218T＞C（p.I73T）。家系调查：例1父亲为相同位点突变，无呼吸道症状，肺部CT可见间质病变。例2为散发，家系正常。结论　SPC基因p.I73T突变引起的间质性肺病可遗传或散发，多数婴幼儿期发病，临床表现为慢性咳嗽、气促、缺氧，伴生长发育落后；肺部CT表现磨玻璃影，伴区域性过度通气或囊状影；部分患儿泼尼松疗效好，预后好，但个体差异大。

关键词: 间质性肺疾病, 肺表面活性物质相关蛋白, 基因, 突变, 婴幼儿