Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland; Division of Pneumology, University Hospital Zurich, Zurich, Switzerland.
Eur J Intern Med. 2013 Dec;24(8):707-13. doi: 10.1016/j.ejim.2013.05.003. Epub 2013 May 30.
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline in forced expiratory volume in one second (FEV1) over time was observed in these patients. Lysosomal storage of glycosphingolipids is considered leading to small airway disease via hyperplasia of the bronchiolar smooth muscle cells. Larger airways may become involved with ongoing disease process. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials.
法布里病（FD）是一种 X 连锁溶酶体贮积症，由α-半乳糖苷酶 A 缺乏引起，导致鞘脂在几乎所有人体细胞中贮积，进而导致器官功能障碍。肺部受累仍存在争议。但是，与普通人群相比，FD 患者的阻塞性肺疾病患病率高出十倍。此外，这些患者的一秒用力呼气容积（FEV1）随时间呈加速下降。糖鞘脂的溶酶体贮积被认为通过细支气管平滑肌细胞的增生导致小气道疾病。随着疾病的进展，更大的气道也可能受累。FD 中没有肺间质受累的证据。在大型前瞻性对照试验中，仍需要确定酶替代疗法对呼吸受累的影响。
