[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].

Objective: To investigate the clinical features and outcomes of pulmonary surfactant protein C gene (SFTPC) 218 site mutation in children with pulmonary interstitial disease. Methods: In this retrospective study, the clinical data, outcomes and influencing factors of 7 cases of SFTPC gene 218 site mutations in infants with interstitial lung disease in three hospitals from January 2013 to December 2016 were analyzed. Results: Seven cases were full-term children, 4 cases had the onset within 3 months after birth, 2 cases after 1 year old, 1 case within 3 months to 1 year, clinical manifestations of these cases were cough, shortness of breath, dyspnea, and limited growth and development, could not maintain life without additional oxygen supplementation, blood gas analysis showed hypoxemia, 4 cases had clubbing. Chest CT showed diffuse ground glass-like change in both lungs. Three cases were positive for cytomegalovirus (CMV)-IgM or CMV-DNA. The mutations in 7 cases were exon 3, 5 of which were SFTPC gene c.218T>C, p.lle73Thr (heterozygous mutation), and 2 cases were SFTPC gene c.218T>A, p.lle73Asn (homozygous mutation), 1 case combined with ABCA3 gene mutations. Four patients were treated with prednisone alone, one with prednisone plus hydroxychloroquine, and two with symptomatic treatment. Three patients died, 3 patients improved, and 1 patient was lost to follow-up. Conclusions: The severity and prognosis of the children with SP-C 218 site mutation may be affected by many factors. Some children who received glucocorticoid alone do not have a good response.目的： 探讨肺表面活性物质蛋白C基因（SFTPC）218位点变异相关性婴幼儿肺间质疾病患儿的临床特点、转归及影响因素。 方法： 回顾性分析广西医科大学第一附属医院儿科、深圳市儿童医院呼吸科及苏州大学附属儿童医院呼吸科2013年1月—2016年12月收治的7例SFTPC基因218位点变异相关性婴幼儿肺间质疾病的临床资料及转归。 结果： 7例患儿均为足月儿，4例3月龄内发病，2例1岁以后发病，1例3月龄至1岁之间发病，临床以咳嗽、气促、呼吸困难等为主要表现，伴生长发育受限，无法脱离鼻导管给氧，血气分析提示低氧血症，4例慢性缺氧、杵状指。胸部CT均表现两肺弥漫性磨玻璃影。3例血巨细胞病毒（CMV）免疫球蛋白M或CMV-DNA阳性。7例患儿变异的部位均在exon3，其中5例患儿为SFTPC基因c.218T>C，p.lle73Thr（杂合变异），2例患儿为SFTPC基因c.218T>A，p.lle73Asn（纯合变异），1例合并ABCA3基因变异。4例患儿单纯应用泼尼松治疗，1例应用泼尼松联合羟氯喹治疗，2例对症治疗。3例死亡，3例好转，1例失访。 结论： SFTPC基因218位点变异相关的婴幼儿肺间质性疾病的临床表现特异性不强，其严重程度及转归可能受到病毒感染等多因素影响，单独糖皮质激素治疗对部分患儿可能作用有限。.