Service de Pneumologie, Hôpital Foch, Suresnes, France UPRES EA 220, Suresnes, France Faculté des Sciences de la Santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Versailles, France
CEREDIH, Centre de Référence des Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France Service d'Immunologie-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France INSERM UMR 1163, Paris, France.
Eur Respir J. 2015 Jun;45(6):1613-23. doi: 10.1183/09031936.00118414. Epub 2015 Jan 22.
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by failure of superoxide production in phagocytic cells. The disease is characterised by recurrent infections and inflammatory events, frequently affecting the lungs. Improvement of life expectancy now allows most patients to reach adulthood. We aimed to describe the pattern of pulmonary manifestations occurring during adulthood in CGD patients. This was a retrospective study of the French national cohort of adult patients (≥16 years old) with CGD. Medical data were obtained for 67 adult patients. Pulmonary manifestations affected two-thirds of adult patients. Their incidence was significantly higher than in childhood (mean annual rate 0.22 versus 0.07, p=0.01). Infectious risk persisted despite anti-infectious prophylaxis. Invasive fungal infections were frequent (0.11 per year per patient) and asymptomatic in 37% of the cases. They often required lung biopsy for diagnosis (10 out of 30). Noninfectious respiratory events concerned 28% of adult patients, frequently associated with a concomitant fungal infection (40%). They were more frequent in patients with the X-linked form of CGD. Immune-modulator therapies were required in most cases (70%). Respiratory manifestations are major complications of CGD in adulthood. Noninfectious pulmonary manifestations are as deleterious as infectious pneumonia. A specific respiratory monitoring is necessary.
慢性肉芽肿病（CGD）是一种吞噬细胞中超氧化物产生失败导致的原发性免疫缺陷病。该疾病的特征是复发性感染和炎症事件，常影响肺部。目前，预期寿命的改善使大多数患者能够达到成年。我们旨在描述 CGD 患者成年期肺部表现的模式。这是一项对法国 CGD 成年患者（≥16 岁）国家队列的回顾性研究。我们获得了 67 名成年患者的医疗数据。肺部表现影响了三分之二的成年患者。其发生率明显高于儿童期（平均年发生率分别为 0.22 和 0.07，p=0.01）。尽管进行了抗感染预防，但感染风险仍然存在。侵袭性真菌感染很常见（0.11 例/年/患者），37%的病例为无症状。它们经常需要肺活检来诊断（30 例中有 10 例）。非传染性呼吸道事件占成年患者的 28%，常与同时发生的真菌感染相关（40%）。它们在 X 连锁 CGD 患者中更为常见。大多数患者需要免疫调节剂治疗（70%）。呼吸道表现是 CGD 成年期的主要并发症。非传染性肺部表现与感染性肺炎一样具有危害性。需要进行特定的呼吸监测。
