硫酸羟氯喹治疗肺表面活性蛋白C基因突变致婴儿间质性肺病1例并文献复习
发布时间：2018-08-29 12:04
【摘要】：目的报道硫酸羟氯喹治疗肺表面活性蛋白C基因(SFTPC)突变致婴儿间质性肺病的疗效,提高对该病诊断和治疗的认识。方法总结分析1例SFTPC突变致婴儿间质性肺病的临床特点、诊断过程和硫酸羟氯喹的疗效,并进行文献复习。结果患儿女,2月龄,因"生后反复咳嗽伴气促2个月"于2015年9月9日就诊。患儿在新生儿期即发生呼吸窘迫,持续无法离氧。影像学示肺部渗出,病原学检查均阴性,常规抗感染治疗无效,否认肺部疾病家族史。基因检测发现SFTPC基因外显子4有1个杂合错义突变位点(c.T337C:p.Y113H),目前尚无报道。患儿13月龄时开始硫酸羟氯喹治疗,治疗6个月后,呼吸窘迫、生长发育情况和胸部CT影像学表现明显改善。在Pub Med、Web of Science、中国知网、维普数据库和万方数据库中检索SFTPC基因突变的间质性肺病,检索时间均从建库至2016年12月1日,共检索到相关文献12篇,均为英文文献。总结包括本文1例患儿在内的51例SFTPC基因突变致间质性肺病病例使用硫酸羟氯喹的治疗情况,随访0.3~15.8年,其中单用硫酸羟氯喹治疗的有12例,均取得良好疗效,未提及或未发现药物不良反应;全身糖皮质激素合用硫酸羟氯喹治疗39例,33例(84.6%)有效,2例(5.1%)无改善,4例(10.3%)恶化(1例死亡)。结论对于SFTPC基因突变的婴儿间质性肺病,早期发现和早期诊断很重要,及早使用硫酸羟氯喹治疗可以改善临床症状、体征和生长发育情况,减少终末肺的发生。
[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.
【作者单位】： 复旦大学附属儿科医院;
【分类号】：R725.6
，
本文编号：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.
【作者单位】： 复旦大学附属儿科医院;
【分类号】：R725.6
，
本文编号：2211144
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