肺泡表面活性物质蛋白C基因p.I73T突变2例家系调查并文献复习

发布时间：2018-06-28 07:06

本文选题：间质性肺疾病 + 肺表面活性物质相关蛋白　；参考：《中国实用儿科杂志》2017年02期

【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.218TC(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。
[Abstract]:Objective to investigate the clinical features and prognosis of pulmonary surfactant protein (SP) C gene p.I73T mutation. Methods the clinical characteristics of 2 children with SPC p.I73T mutation in Shenzhen Children's Hospital from 2015 to 2016 were analyzed. The data of therapeutic outcome and family investigation were analyzed. And review the relevant literature. Results case 1 was 1 year old and 11 months old male, and case 2 was 11 months old female. All of them showed chronic cough, accompanied by shortness of breath, cyanosis, poor growth and development, diffuse ground-glass density on CT in acute stage, multiple cystic shadow and regional hyperventilation in case 2. Case 1 was treated with prednisone for half a year, respiratory symptoms disappeared, and a small amount of ground-glass density could still be seen in lung CT examination one and a half years later, and scattered cystic shadow appeared. Case 2 still had shortness of breath and oxygen dependence after treatment with prednisone. After 2 months of treatment with hydroxychloroquine, the symptoms were improved in 2 cases. All cases were SPC gene c.218TC (p. I73T). Family investigation: case 1 had the same locus mutation, no respiratory symptoms and interstitial lesions on CT. Case 2 is sporadic with normal pedigree. Conclusion the interstitial pulmonary disease caused by SPC p.I73T mutation can be inherited or sporadic. Most of the diseases in infantile stage are characterized by chronic cough, shortness of breath, anoxia, and poor growth and development. With regional hyperventilation or cystic shadow, prednisone had good curative effect and good prognosis, but the individual difference was great.
【作者单位】：深圳市儿童医院呼吸科;
【基金】：深圳市科技计划(JCYJ20140416141331545);深圳市科技计划(JCYJ20150403100317067)
【分类号】：R725.6

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