肺表面活性蛋白C基因突变致婴幼儿间质性肺病3例并文献复习

Pulmonary Surfactant Protein C Gene Mutations Associated with Infantile Interstitial Lung Disease: Three Cases Study and the Review of Related Literature

目的:分析3例肺表面活性蛋白C基因(SFTPC)突变致婴幼儿间质性肺病(ILD)的临床资料,结合文献复习,分析特点。方法:总结近2年住院的3例患儿的临床特点并进行文献复习。结果:1) 例1为35周早产女婴,3月龄起病,有慢性缺氧,杵状指等表现。例2、3为31周早产双胎,生后起病,姐姐反复下呼吸道感染,生长发育落后;弟弟平素无症状,呼吸道感染后易出现咳嗽、气促。胸部CT均提示肺间质病变。基因检测SFTPC均有杂合错义突变,例1为c.218T】C (p.I73T),双胎为c.115G】T (p.V39L)。治疗上例1在气管镜下注入牛肺表面活性物质,例2口服激素,例3无特殊治疗。2) 检索到5例临床资料完整的SFTPC突变相关婴幼儿ILD,结合本文3例显示:多在1岁内起病,表现为咳嗽、气促、反复呼吸道感染,胸部CT示间质性改变,基因检查有助于早期诊断,激素、免疫抑制剂治疗可能有效。结论:SFTPC突变与部分婴幼儿ILD密切相关,重视基因检测在婴幼儿ILD中的作用。

Objective: To analyze three cases of pulmonary surfactant protein C gene (SFTPC) mutations associated with infantile interstitial lung disease (ILD). Methods: Summarize the clinical feature in our hospital recent 2 years and related literatures were reviewed. Results: 1) Case 1 was 35 weeks premature baby, who developed the disease at the age of 3 months, presenting with chronic hypoxia and clubbed fingers. Case 2 and 3 were 31 weeks premature twins: sister had recurrent lower respiratory tract infection and growth retardation;brother had no symptoms, but cough and shortness of breath are easy to occur after respiratory tract infection. Chest computed tomography (CT) showed interstitial lung disease. Genes showed they all had SFTPC heterozygous missense mutation, c.218T>C (p.I73T) in case 1, c.115G>T (p.V39L) in twins. Case 1 injected bovine lung surfactant with the bronchoscope, case 2 had oral corticosteroids, case 3 had no treatment. 2) There are 5 cases with detailed clinical data, altogether with 3 cases in this study showing that: the onset of the disease usually occurred within 1 year of age, presenting as cough, shortness of breath and recurrent respiratory tract infection. Chest CT showed interstitial changes. Genetic testing can help with early diagnosis, and hormone and immunosuppressive therapy may be effective. Conclusion: SFTPC mutation is closely related to some infantile ILD, so the role of gene testing in infantile ILD should be emphasized.