本文選題：間質(zhì)性肺疾病 + 肺表面活性物質(zhì)相關(guān)蛋白��； 參考：《中國實用兒科雜志》2017年02期

【摘要】：目的探討肺表面活性物質(zhì)蛋白(SP)C基因p.I73T突變的臨床特點和轉(zhuǎn)歸。方法分析2015—2016年深圳市兒童醫(yī)院收治的2例有SPC基因p.I73T突變患兒的臨床特點、治療轉(zhuǎn)歸和家系調(diào)查資料。并就相關(guān)文獻(xiàn)進(jìn)行復(fù)習(xí)。結(jié)果例1為1歲11個月男性患兒;例2為11個月女性患兒。均表現(xiàn)為慢性咳嗽,伴氣促、發(fā)紺、生長發(fā)育落后,急性期肺部CT均有彌漫性磨玻璃密度影,例2可見多發(fā)小囊狀影和區(qū)域性通氣過度。例1經(jīng)潑尼松治療半年后,呼吸道癥狀消失,1年半后復(fù)查肺部CT仍可見少量磨玻璃密度影,并出現(xiàn)散在囊狀影。例2經(jīng)潑尼松治療后仍有氣促和氧依賴,加羥氯喹治療2個月后癥狀有所好轉(zhuǎn)。2例均為SPC基因c.218TC(p.I73T)。家系調(diào)查:例1父親為相同位點突變,無呼吸道癥狀,肺部CT可見間質(zhì)病變。例2為散發(fā),家系正常。結(jié)論 SPC基因p.I73T突變引起的間質(zhì)性肺病可遺傳或散發(fā),多數(shù)嬰幼兒期發(fā)病,臨床表現(xiàn)為慢性咳嗽、氣促、缺氧,伴生長發(fā)育落后;肺部CT表現(xiàn)磨玻璃影,伴區(qū)域性過度通氣或囊狀影;部分患兒潑尼松療效好,預(yù)后好,但個體差異大。
[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.
【作者單位】： 深圳市兒童醫(yī)院呼吸科;
【基金】：深圳市科技計劃(JCYJ20140416141331545);深圳市科技計劃(JCYJ20150403100317067)
【分類號】：R725.6

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