硫酸羥氯喹治療肺表面活性蛋白C基因突變致嬰兒間質(zhì)性肺病1例并文獻復習
發(fā)布時間：2018-08-29 12:04
【摘要】：目的報道硫酸羥氯喹治療肺表面活性蛋白C基因(SFTPC)突變致嬰兒間質(zhì)性肺病的療效,提高對該病診斷和治療的認識。方法總結分析1例SFTPC突變致嬰兒間質(zhì)性肺病的臨床特點、診斷過程和硫酸羥氯喹的療效,并進行文獻復習。結果患兒女,2月齡,因"生后反復咳嗽伴氣促2個月"于2015年9月9日就診�；純涸谛律鷥浩诩窗l(fā)生呼吸窘迫,持續(xù)無法離氧。影像學示肺部滲出,病原學檢查均陰性,常規(guī)抗感染治療無效,否認肺部疾病家族史�；驒z測發(fā)現(xiàn)SFTPC基因外顯子4有1個雜合錯義突變位點(c.T337C:p.Y113H),目前尚無報道�；純�13月齡時開始硫酸羥氯喹治療,治療6個月后,呼吸窘迫、生長發(fā)育情況和胸部CT影像學表現(xiàn)明顯改善。在Pub Med、Web of Science、中國知網(wǎng)、維普數(shù)據(jù)庫和萬方數(shù)據(jù)庫中檢索SFTPC基因突變的間質(zhì)性肺病,檢索時間均從建庫至2016年12月1日,共檢索到相關文獻12篇,均為英文文獻�？偨Y包括本文1例患兒在內(nèi)的51例SFTPC基因突變致間質(zhì)性肺病病例使用硫酸羥氯喹的治療情況,隨訪0.3~15.8年,其中單用硫酸羥氯喹治療的有12例,均取得良好療效,未提及或未發(fā)現(xiàn)藥物不良反應;全身糖皮質(zhì)激素合用硫酸羥氯喹治療39例,33例(84.6%)有效,2例(5.1%)無改善,4例(10.3%)惡化(1例死亡)。結論對于SFTPC基因突變的嬰兒間質(zhì)性肺病,早期發(fā)現(xiàn)和早期診斷很重要,及早使用硫酸羥氯喹治療可以改善臨床癥狀、體征和生長發(fā)育情況,減少終末肺的發(fā)生。
[Abstract]:Objective to report the efficacy of hydroxychloroquine sulfate in the treatment of interstitial pulmonary disease induced by (SFTPC) mutation of pulmonary surfactant protein C gene, and to improve the diagnosis and treatment of the disease. Methods A case of infant interstitial pulmonary disease caused by SFTPC mutation was analyzed. The clinical features, diagnostic process and curative effect of hydroxychloroquine sulfate were analyzed. Results the children were 2 months old, who went to hospital on September 9, 2015 because of repeated cough after birth and 2 months of shortness of breath. Respiratory distress occurs in the newborn and continues to be incapacitated. Imaging showed pulmonary exudation, negative etiology, ineffective routine antiinfective treatment, and denial of family history of pulmonary disease. A heterozygous missense mutation site (c.T337C:p.Y113H) was found in exon 4 of SFTPC gene, which has not been reported. The children were treated with hydroxychloroquine sulfate at the age of 13 months. After 6 months of treatment, respiratory distress, growth and development and chest CT imaging were significantly improved. The interstitial lung disease with SFTPC gene mutation was searched in Pub Med,Web of Science, Weip and Wanfang databases. The retrieval time was from the construction of the database to December 1, 2016. There were 12 related papers, all of which were in English. A total of 51 patients with interstitial pulmonary disease caused by SFTPC gene mutation were treated with hydroxychloroquine sulfate. A follow-up of 0.3 ~ 15.8 years was carried out. 12 of them were treated with hydroxychloroquine sulfate alone. No mention or no adverse drug reaction was found, 39 cases (84.6%) were treated with glucocorticoid and hydroxychloroquine sulfate, 2 cases (5.1%) had no improvement and 4 cases (10.3%) had no improvement (1 case died). Conclusion the early detection and early diagnosis of interstitial lung disease with SFTPC gene mutation are very important. Early use of hydroxychloroquine sulfate can improve clinical symptoms, signs, growth and development, and reduce the incidence of terminal lung.
【作者單位】： 復旦大學附屬兒科醫(yī)院;
【分類號】：R725.6
，
本文編號：2211144
[Abstract]:Objective to report the efficacy of hydroxychloroquine sulfate in the treatment of interstitial pulmonary disease induced by (SFTPC) mutation of pulmonary surfactant protein C gene, and to improve the diagnosis and treatment of the disease. Methods A case of infant interstitial pulmonary disease caused by SFTPC mutation was analyzed. The clinical features, diagnostic process and curative effect of hydroxychloroquine sulfate were analyzed. Results the children were 2 months old, who went to hospital on September 9, 2015 because of repeated cough after birth and 2 months of shortness of breath. Respiratory distress occurs in the newborn and continues to be incapacitated. Imaging showed pulmonary exudation, negative etiology, ineffective routine antiinfective treatment, and denial of family history of pulmonary disease. A heterozygous missense mutation site (c.T337C:p.Y113H) was found in exon 4 of SFTPC gene, which has not been reported. The children were treated with hydroxychloroquine sulfate at the age of 13 months. After 6 months of treatment, respiratory distress, growth and development and chest CT imaging were significantly improved. The interstitial lung disease with SFTPC gene mutation was searched in Pub Med,Web of Science, Weip and Wanfang databases. The retrieval time was from the construction of the database to December 1, 2016. There were 12 related papers, all of which were in English. A total of 51 patients with interstitial pulmonary disease caused by SFTPC gene mutation were treated with hydroxychloroquine sulfate. A follow-up of 0.3 ~ 15.8 years was carried out. 12 of them were treated with hydroxychloroquine sulfate alone. No mention or no adverse drug reaction was found, 39 cases (84.6%) were treated with glucocorticoid and hydroxychloroquine sulfate, 2 cases (5.1%) had no improvement and 4 cases (10.3%) had no improvement (1 case died). Conclusion the early detection and early diagnosis of interstitial lung disease with SFTPC gene mutation are very important. Early use of hydroxychloroquine sulfate can improve clinical symptoms, signs, growth and development, and reduce the incidence of terminal lung.
【作者單位】： 復旦大學附屬兒科醫(yī)院;
【分類號】：R725.6
，
本文編號：2211144
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