Shelmerdine Susan C, Semple Thomas, Wallis Colin, Aurora Paul, Moledina Shahin, Ashworth Michael T, Owens Catherine M
Department of Clinical Radiology, Great Ormond Street Hospital, London, UK.
Department of Clinical Radiology, The Royal Brompton Hospital, London, UK.
Pediatr Pulmonol. 2017 Oct;52(10):1306-1315. doi: 10.1002/ppul.23695. Epub 2017 Sep 12.
Interstitial lung disease (ILD) in infants represents a rare and heterogenous group of disorders, distinct from those occurring in adults. In recent years a new entity within this category is being recognized, namely filamin A (FLNA) mutation related lung disease. Our aims are to describe the clinical and radiological course of patients with this disease entity to aid clinicians in the prognostic counseling and management of similar patients they may encounter.
A retrospective case note review was conducted of all patients treated at our institution (a specialist tertiary referral childrens' center) for genetically confirmed FLNA mutation related lung disease. The clinical presentation, evolution, management and radiological features were recorded and a medical literature review of Medline indexed articles was conducted.
We present a case series of four patients with interstitial lung disease and genetically confirmed abnormalities within the FLNA gene. Their imaging findings all reveal a pattern of predominantly upper lobe overinflation, coarse pulmonary lobular septal thickening and diffuse patchy atelectasis. The clinical outcomes of our patients have been variable ranging from infant death, lobar resection and need for supplemental oxygen and bronchodilators.
The progressive nature of the pulmonary aspect of this disorder and need for early aggressive supportive treatment make identification crucial to patient management and prognostic counseling.
婴儿间质性肺疾病（ILD）是一组罕见且异质性的疾病，与成人所患疾病不同。近年来，这一类别中一种新的疾病实体正在被认识，即细丝蛋白A（FLNA）突变相关的肺部疾病。我们的目的是描述患有这种疾病实体的患者的临床和放射学病程，以帮助临床医生对他们可能遇到的类似患者进行预后咨询和管理。
对在我们机构（一家专科三级转诊儿童中心）接受治疗的所有经基因确诊为FLNA突变相关肺部疾病的患者进行回顾性病例记录审查。记录临床表现、病情演变、管理情况和放射学特征，并对Medline索引文章进行医学文献综述。
我们展示了一组4例间质性肺疾病且经基因证实FLNA基因存在异常的病例系列。他们的影像学表现均显示出以肺上叶过度充气、粗大的肺小叶间隔增厚和弥漫性斑片状肺不张为主的模式。我们患者的临床结局各不相同，包括婴儿死亡、肺叶切除以及需要补充氧气和使用支气管扩张剂。
这种疾病肺部方面的进行性性质以及早期积极支持治疗的必要性使得识别对于患者管理和预后咨询至关重要。
