肺表面活性蛋白C基因突变相关性新生儿呼吸窘迫综合征2例并文献复习

目的 总结2例肺表面活性蛋白C基因（SFTPC）突变的新生儿呼吸窘迫综合征（NRDS）的临床特点和基因诊断，提高对该病的认识。方法 总结分析本文2例NRDS患儿的临床资料和基因检测结果，并进行文献复习。结果 2例患儿分别为38+3周足月儿和35+2周早产儿，均于生后即发生呼吸窘迫，X线胸片示NRDS，病原学检查均为阴性。均否认肺部疾病家族史。表面活性物质替代治疗和正压辅助通气支持有效。基因检测显示：1例为SFTPC基因c.68G>G/A,p.R23Q杂合错义突变，为首次报道；1例为SFTPC基因c.115G>G/T,p.V39L杂合错义突变，为已报道致病突变。共检索到临床资料完整的SFTPC突变NRDS 6篇文献7例，结合本文2例，9例均生后呼吸窘迫，影像学以弥漫性侵润和间质性改变为主，多予机械通气、PS对症支持治疗，2例死亡，1例间质性肺病，1例支气管肺发育不良，4例随访健康，1例失访。结论 中国NRDS病例中存在SFTPC基因突变，相关基因突变的识别，可为早期干预、预后判断以及遗传咨询提供依据。

Surfactant protein C gene mutations in two newborns with neonatal respiratory distress syndrome and literature review

Objective To report two cases with neonatal respiratory distress syndrome(NRDS) carrying surfactant protein C gene(SFTPC) mutations.Methods The clinical, radiological and genetic testing data of the two cases were analyzed and related literatures were reviewed.Results The two cases were a full-term(38+3 weeks) newborn and a premature(35+2 weeks) neonate respectively. Both newborns developed respiratory distress shortly after birth requiring surfactant replacement and positive-pressure assisted ventilation. Imaging findings were consistent with NRDS for each case. Various etiology examinations were negative. Family history of pulmonary diseases was negative for each case. A heterozygous missense SP-C mutation SFTPC: c.68G >G/A,p.R23Q was identified in the full-term newborn which had not been reported yet. A heterozygous missense SP-C mutation SFTPC: c.115G>G/T,p.V39L was detected in another case which had been reported to be a cause of childhood interstitial lung disease. Seven RDS cases with SFTPC mutations and detailed clinical information were reported in six articles. Altogether with the two cases in this study, all nine cases presented respiratory distress at birth and required surfactant administration and mechanical ventilation with a main radiological feature of bilateral diffuse haziness and/or interstitial changes. As for the outcomes, two cases died, one survived with interstitial lung disease, one had bronchopulmonary dysplasia, four stayed healthy and one was lost in the follow-up.Conclusion Chinese patients with NRDS carrying SP-C gene mutations may be disease-causing. Identification of these gene mutations will be beneficial to early intervention, prognosis evaluation and genetic counseling.