足月女婴生后呼吸困难 机械通气不能脱机

Dyspnea and ventilator dependence after birth in a full-term female infant

患儿,女,43 d,生后气促发绀、呻吟,呼吸困难43 d。体检可见口唇发绀,明显三凹征,多次肺部影像学提示双肺弥漫性磨玻璃影,予以抗感染、持续机械通气治疗,症状无明显改善。基因检测证实患儿存在ABCA3基因复合杂合突变c.1890C>A(p.Tyr630Ter)+c.3208G>A(p.Ala1070Thr),前者来自其父亲,后者来自其母亲。肺组织病理检查符合肺间质疾病。该患儿最终确诊为ABCA3基因突变所致婴儿弥漫性肺间质疾病。当足月新生儿出生后出现气促、呼吸困难等表现,肺部影像学提示弥漫性磨玻璃样变,常规治疗效果欠佳,呼吸机参数不能下调,需高度考虑先天性肺泡表面活性物质代谢缺陷。尽早完善基因检测,可为早期干预、预后判断及遗传咨询提供依据。

A female infant, aged 43 days, had shortness of breath, cyanosis, groan, and dyspnea since birth. Physical examination showed cyanosis of lips and three-concave sign, and multiple lung imaging examinations showed diffuse ground-glass opacities in both lungs. The girl was given anti-infective therapy and continuous mechanical ventilation but there were no significant improvements in symptoms. Gene testing confirmed a compound heterozygous mutation, c.1890 C>A(p.Tyr630 Ter)+c.3208 G>A(p.Ala1070 Thr), in the ABCA3 gene, with the former from her father and the latter from her mother. Pathological examination of the lungs indicated pulmonary interstitial disease. The girl was diagnosed with infantile diffuse pulmonary interstitial disease caused by mutations in the ABCA3 gene. When fullterm neonates experience shortness of breath and dyspnea after birth, pulmonary imaging suggests diffuse ground-glass changes, and conventional treatment is not effective(ventilator-dependent), congenital pulmonary surfactant metabolism defects needs to be considered. Gene testing, which can provide a basis for early intervention, prognostic evaluation, and genetic counseling, should be performed as early as possible.