全肺灌洗治疗婴儿肺泡蛋白沉积症一例并文献复习

目的探讨婴儿全肺灌洗治疗肺泡蛋白沉积症的安全性、可行性及操作要点。方法报道2018年11月上海交通大学医学院附属上海儿童医学中心重症医学科收治的1例肺泡蛋白沉积导致呼吸衰竭的患儿的临床表现、基因检查及全肺灌洗治疗方法;并以whole lung lavagepediatricpulmonary alveolar proteinosis全肺灌洗儿童肺泡蛋白沉积为检索词,检索PubMed、Springer Link、中国知网、维普、万方数据库建库至2019年4月相关文献并进行总结。结果患儿男,3月龄,因咳嗽、气促伴口唇青紫1周入院。查体示肝脾肿大。血常规示轻度贫血(血红蛋白96 g/L),白细胞、血小板及C反应蛋白正常。白蛋白偏低(31 g/L),天冬氨酸转氨酶轻度升高(115 U/L);乳酸脱氢酶显著升高(>6600 U/L),铁蛋白显著升高(>4500μg/L),血氨轻度升高(165μmol/L)。胸部CT显示两肺透光度减低,斑片状高密度影及磨玻璃样影。基因检查显示SLC7A7基因存在突变(c.625+1G>A)。支气管肺泡灌洗液过碘酸希夫反应(PAS染色)阳性。患儿诊断为重症肺炎、呼吸衰竭、赖氨酸尿性蛋白耐受不良、肺泡蛋白沉积症。行左右肺全肺灌洗治疗后患儿顺利撤机,脱离吸氧并出院。文献检索共11篇,中文0篇、英文11篇,纳入21例患者,进行全肺灌洗后呼吸功能好转者占76%(16/21)。结论全肺灌洗可有效改善婴儿肺泡蛋白沉积导致的呼吸衰竭,改善患儿呼吸功能;且操作具有可行性及安全性。

Whole lung lavage in an infant with pulmonary alveolar proteinosis and literature review

Objective To investigate the safety,feasibility and operation key points of whole lung lavage in infants with pulmonary alveolar proteinosis.Methods The clinical manifestations,genetic screening,therapeutic interventions and outcome of an infant with pulmonary alveolar proteinosis complicated with respiratory failure who received whole lung lavage in November 2018 in Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine were reported.Websites including PubMed,Springer Link,China National Knowledge Infrastructure(CNKI),Weipu Database,and Wanfang Database were searched using the key words ofwhole lung lavagepediatricandpulmonary alveolar proteinosisfor articles published from their establishments to April 2019.Relevant literature was reviewed.Results A 3-month-old boy had experienced cough,shortness of breath and cyanosis for 1 week prior to admission to pediatric intensive care unit.Physical examination showed hepatosplenomegaly.Complete blood cell count showed mild anemia(hemoglobin 96 g/L)and normal white blood cells.The patient had normal C-reactive protein and normal blood platelet.Biochemical panel showed hypoalbuminemia(31 g/L),mildly elevated glutamic oxaloacetic transaminase(115 U/L)and blood ammonia(165μmol/L),extremely elevated lactate dehydrogenase(>6600 U/L)and hyperferritinemia(>4500μg/L).Chest computed tomography(CT)revealed decreased transmittance of both lungs,patchy high density shadow and ground glass opacity.Genetic testing revealed a mutation of c.625+1G>A in SLC7A7.Schiff reaction(PAS staining)in bronchoalveolar lavage fluid was positive.The patient was diagnosed with severe pneumonia,respiratory failure,lysinuria urinary protein intolerance,and pulmonary alveolar proteinosis.The patient received sequential unilateral whole lung lavage in 2 days and was successfully weaned from ventilator.He was discharged home breathing room air.Eleven articles(11 in English and non in Chinese)were reviewed.Twenty-one patients were included.After whole lung lavage,76%(16/21)of the patients had improvement in respiratory function.Conclusions Whole lung lavage can effectively improve respiratory failure caused by pulmonary alveolar proteinosis in infant patients.The procedure is feasible and safe.