Department of Respiratory Medicine, University General Hospital of Patras, Patras, Periféria Dhitikís Elládh, Greece.
Respiratory, University General Hospital of Patras, Patra, Greece.
BMJ Case Rep. 2022 Jul 4;15(7):e249242. doi: 10.1136/bcr-2022-249242.
A middle-aged man was referred to our respiratory department with dyspnoea progressively deteriorating and non-productive cough over the past 8 months. High-resolution CT revealed multiple bilateral consolidations, traction bronchiectasis, reticular pattern and honeycombing with basal and peripheral predominance. Serology tests were negative. Pulmonary function tests showed moderate restrictive functional impairment and severe reduction in diffusing capacity for carbon monoxide. Meticulous evaluation of patient's medical history revealed recent administration of oral corticosteroid due to pulmonary fibrosis potentially in the context of Fanconi syndrome diagnosed at childhood. The working diagnosis of interstitial lung disease (ILD) as a rare complication of Fanconi syndrome was proposed following multidisciplinary discussion. Despite combination treatment with low doses of corticosteroids and antifibrotic compound, the patient exhibited clinical, radiological and functional deterioration, was admitted to intensive care unit due to respiratory failure following infection-driven progression of fibrotic ILD and finally died.
一位中年男性因呼吸困难和过去 8 个月来持续恶化的无痰咳嗽，被转至我们的呼吸科。高分辨率 CT 显示双肺多发实变、牵拉性支气管扩张、网状影和蜂窝肺，以基底和外周为主。血清学检查为阴性。肺功能检查显示中度限制性功能障碍和一氧化碳弥散量严重减少。详细评估患者的病史，发现最近因儿童时期诊断的范可尼综合征相关的肺纤维化而口服皮质类固醇。多学科讨论后提出间质性肺疾病（ILD）是范可尼综合征的罕见并发症的工作诊断。尽管联合使用低剂量皮质类固醇和抗纤维化药物治疗，但患者仍出现临床、影像学和功能恶化，因纤维化 ILD 继发感染导致呼吸衰竭而入住重症监护病房，最终死亡。
