Inaty Hanine, Arabelovic Senada
Internal Medicine Department, Tufts Medical Center, Boston, Massachusetts, USA.
BMJ Case Rep. 2013 Apr 25;2013:bcr2013009045. doi: 10.1136/bcr-2013-009045.
Granulomatosis with polyangiitis is a rare type of vasculitis that affects small-sized and medium-sized vessels. Any organ system can become affected, but it most commonly affects the upper airways, lungs and kidneys. The α1-antitrypsin deficiency is another rare disease that involves a genetic deficiency in the enzyme antitrypsin, which is produced in the liver and protects the lung against proteinases. The simultaneous occurrence of these two diseases is very rare and has been described. We present a case of granulomatosis with polyangiitis limited to the upper airways, and α1-antitrypsin deficiency occurring in the same patient. The patient presented with recurrent upper airway infections. The patient was treated with steroids and azathioprine which prevented recurrence of symptoms. High clinical suspicion of the concomitant occurrence of α1-antitrypsin deficiency in patients with vasculitis is essential to provide patients with adequate screening and treatment.
肉芽肿性多血管炎是一种罕见的血管炎类型，可累及小血管和中血管。任何器官系统都可能受累，但最常累及上呼吸道、肺和肾脏。α1抗胰蛋白酶缺乏症是另一种罕见疾病，涉及肝脏产生的抗胰蛋白酶这种酶的基因缺陷，该酶可保护肺免受蛋白酶的侵害。这两种疾病同时发生非常罕见，已有相关报道。我们报告一例局限于上呼吸道的肉芽肿性多血管炎与同一患者发生的α1抗胰蛋白酶缺乏症并存的病例。该患者表现为反复上呼吸道感染。患者接受了类固醇和硫唑嘌呤治疗，症状得以预防复发。对血管炎患者同时发生α1抗胰蛋白酶缺乏症保持高度临床怀疑，对于为患者提供充分的筛查和治疗至关重要。
