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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.1890C > A(p.Tyr630Ter)+c.3208G > A(p.Ala1070Thr), 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 full-term 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.
婴儿弥漫性肺间质疾病 / ABCA3基因突变 / 呼吸衰竭 / 足月新生儿
Infantile diffuse interstitial disease / ABCA3 gene mutation / Respiratory failure / Full-term neonate
[1] 陈龙, 史源. 新生儿急性呼吸窘迫综合征:从概念到实践[J]. 中华实用儿科临床杂志, 2019, 34(18):1364-1367.
[2] Lee EY, Cleveland RH, Langston C. Interstitial lung disease in infants and children:new classification system with emphasis on clinical, imaging, and pathological correlation[M]//Cleveland R. Imaging in Pediatric Pulmonology. Boston, MA:Springer, 2012:99-154.
[3] Kurland G, Deterding RR, Hagood JS, et al. An official American Thoracic Society clinical practice guideline:classification, evaluation, and management of childhood interstitial lung disease in infancy[J]. Am J Respir Crit Care Med, 2013, 188(3):376-394.
[4] Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
[5] Wambach JA, Casey AM, Fishman MP, et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency[J]. Am J Respir Crit Care Med, 2014, 189(12):1538-1543.
[6] Weichert N, Kaltenborn E, Hector A, et al. Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells[J]. Respir Res, 2011, 12(1):4.
[7] Shulenin S, Nogee LM, Annilo T, et al. ABCA3 gene mutations in newborns with fatal surfactant deficiency[J]. N Engl J Med, 2004, 350(13):1296-1303.
[8] Beers MF, Mulugeta S. The biology of the ABCA3 lipid transporter in lung health and disease[J]. Cell Tissue Res, 2017, 367(3):481-493.
[9] 郑跃杰, 陈慧中. 基因缺陷引起的婴幼儿肺间质疾病[J]. 中华儿科杂志, 2014, 52(4):260-263.
[10] Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children[J]. Thorax, 2008, 63(4):366-373.
[11] Parappil H, Al Baridi A, ur Rahman S, et al. Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate[J]. BMJ Case Rep, 2011, 2011:bcr1020103427.
[12] Kröner C, Wittmann T, Reu S, et al. Lung disease caused by ABCA3 mutations[J]. Thorax, 2017, 72(3):213-220.
[13] Hallik M, Annilo T, Ilmoja ML. Different course of lung disease in two siblings with novel ABCA3 mutations[J]. Eur J Pediatr, 2014, 173(12):1553-1556.
[14] Ciantelli M, Ghirri P, Presi S, et al. Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations:a case report[J]. J Perinatol, 2011, 31(1):70-72.
[15] Uchida DA, Wert SE, Nogee LM, et al. Pulmonary nodules in a newborn with ATP-binding cassette transporter A3(ABCA3) mutations[J]. Pediatrics, 2011, 127(5):e1347-e1351.
[16] Agrawal A, Hamvas A, Cole FS, et al. An intronic ABCA3 mutation that is responsible for respiratory disease[J]. Pediatr Res, 2012, 71(6):633-637.
[17] Gonçalves JP, Pinheiro L, Costa M, et al. Novel ABCA3 mutations as a cause of respiratory distress in a term newborn[J]. Gene, 2014, 534(2):417-420.
[18] Mitsiakos G, Tsakalidis C, Karagianni P, et al. A new ABCA3 gene mutation c.3445G>A (p.Asp1149Asn) as a causative agent of newborn lethal respiratory distress syndrome[J]. Medicina (Kaunas), 2019, 55(7):389.
[19] Tan JK, Murray C, Schultz A. ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids[J]. Pediatr Pulmonol, 2016, 51(1):E1-E3.
长沙市科学技术局（kq1706050）。
