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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。
Objective To investigate the clinical features and prognosis of p.I73T mutation in pulmonary surfactant protein (SP) C gene. Methods The clinical features, treatment outcome and pedigree survey data of 2 children with SPC gene p.I73T mutation admitted to Shenzhen Children’s Hospital from 2015 to 2016 were analyzed. And review the relevant literature. Results Example 1 was a 1-year-old and 11-month-old male patient; patient 2 was an 11-month-old female patient. All showed chronic cough, with shortness of breath, cyanosis, growth and development of backward, acute lung CT have diffuse ground glass density, in 2 cases showed multiple small cystic shadow and regional hyperventilation. Example 1 After six months of prednisone treatment, respiratory symptoms disappeared, a year and a half after the review of lung CT can still see a small amount of ground glass density shadow, and the scattered cystic shadow. Example 2 After the treatment of prednisone still have shortness of breath and oxygen dependence, plus hydroxychloroquine 2 months after treatment symptoms have improved. Two cases were SPC gene c.218T> C (p.I73T). Pedigree investigation: case 1 father for the same mutation, no respiratory symptoms, interstitial lung CT can be seen. Example 2 for the distribution, normal family. Conclusion SPC gene p.I73T mutation caused by interstitial lung disease can be generative or sporadic, most of the infantile onset, the clinical manifestations of chronic cough, shortness of breath, hypoxia, accompanied by growth and development of backward; lung CT showed ground glass shadow, with Regional hyperventilation or cystic shadow; some patients with prednisone good effect, good prognosis, but individual differences.