摘要目的 探讨以肺间质疾病为主要表现的免疫缺陷病的临床特征,提高对免疫缺陷引起的肺间质疾病的认识.方法 回顾性分析2014年1月至2016年12月收治在深圳市儿童医院的6例以肺间质疾病为主要表现就诊且最终诊断为免疫缺陷病患儿(男5例、女1例)病例资料,分析免疫缺陷相关的肺间质疾病的临床特点和诊断线索.结果 6例患儿年龄3月龄～5岁9月龄,均表现为咳嗽、气促;3例急性肺部感染和呼吸衰竭;2例慢性缺氧;1例杵状指和趾;3例皮疹;5例营养不良.6例胸部CT均表现为双肺弥漫性磨玻璃密度影,其中2例有囊状影,1例“铺路石征”.5例确诊免疫缺陷前均怀疑肺表面活性物质功能障碍并进行基因检测,结果阴性.通过人类免疫缺陷病毒抗体、免疫功能检查和(或)基因检测,最终诊断1例获得性免疫缺陷综合征、2例高IgM综合征、1例高IgE综合征、1例湿疹-血小板减少伴免疫缺陷综合征、1例STAT3基因功能获得性变异.回顾分析所有病例均有提示免疫缺陷的临床线索.结论 免疫缺陷引起的肺间质疾病主要表现为咳嗽、气促或慢性缺氧,合并感染可引起呼吸衰竭,影像主要表现为弥漫性磨玻璃密度影.仔细询问病史和免疫筛查可发现诊断免疫缺陷的线索.肺间质疾病的病因诊断程序中应重视免疫缺陷病的筛查,否则可能导致漏诊或不必要的检查.

abstractsObjective To summarize the clinical features of immunodeficiency diseases with interstitial lung disease (ILD) as major clinical manifestations and to improve understanding etiology of ILD.Methods The clinical features and clinical clues for diagnosis of six cases with immunodeficiency presented with ILD in Shenzhen Children's Hospital from January 2014 to December 2016 were retrospectively analyzed.Results The patients' age ranged from 3 months to 5 years and 9 months,5 cases were male.All cases had cough and tachypnea,3 cases had lung infection and respiratory failure,2 cases had chronic hypoxia and one had clubbing.Three cases had skin rashes;5 cases had failure to thrive.Chest CT scan showed diffuse ground glass opacity in all the 6 cases,and 2 cases had cystic changes and one had "crazy-paving" pattern.Five patients were suspected to have surfactant dysfunction and genetic testing was performed before diagnosis of immunodeficiency,of which the results were negative.With human immunodeficiency virus antibody test or immunologic laboratory testing and/or immune genetic panel,acquired immune deficiency syndrome was confirmed in one case,hyper-IgM syndrome was confirmed in two cases and hyper-IgE syndrome in one case,Wiskott-Aldrich syndrome in one and STAT3 gain of function genetic mutation in another.All cases had clinical clues indicative of underlying immunocompromise.Conclusions The clinical features of immunodeficiency diseases with ILD are cough,tachypnea or hypoxia,respiratory failure with infection,diffuse ground glass opacity in Chest CT imaging.With thorough medical history and immunology screening,there would be clinical clues indicative of underlying immunocompromise.Screening for immunodeficiency disease should be emphasized in the differential diagnosis of ILD,otherwise it may lead to misdiagnosis or unnecessary testing.