摘要
目的:慢性肉芽肿性疾病(CGD)是一种罕见的吞噬细胞氧化代谢紊乱性疾病。除了并发感染之外,CGD通常导致空腔脏器的损害,尤其是胃肠道。本研究的目的是评估CGD引起胃肠道损害性的概况、研究现状及后果。方法:对国家健康研究院病例记载的140例CGD患者(67%X连锁)
Objective. Chronic granulomatous disease (CGD) is a rare disorder of phagocyte oxidative metabolism. In addition to infectious complications, granulomatous lesions often in-volve hollow viscera, especially the gastrointestinal (GI) tract. The objective of this study was to evaluate the clin-ical presentation, prevalence, and consequences of GI in-volvement in patients with CGD. Methods. The medical records of 140 patients with CGD (67% X-linked) followed at the National Institutes of Health were reviewed and ab-stracted for GI manifestations. All available GI pathology was reviewed. Results. GI involvement was recorded in 46 (32. 8% ) of 140 patients with CGD, 89% of whom had X-linked inheritance. The median age at the time of initial GI manifestations was 5 years (range: 0.8-30 years); 70% of the affected patients presented with GI involvement in the first decade of life. Abdominal pain was the most frequent symptom (100% ), and hypoalbuminemia was the most frequent sign (70% ) . Prednisone controlled symp-toms and signs in the majority of affected patients, but re-lapse of symptoms occurred in 71%. GI involvement had no effect on mortality and was unassociated with interfer-on-γ use. Conclusion. GI involvement is a common and recurring problem in CGD, especially in those with X-linked inheritance. Currently, there is no clear evidence for an infectious cause. The frequency of GI involvement is unaf-fected by the use of interferon-γ and roes not affect mortality. GI involvement should be sought in patients who have CGD with abdominal pain, growth delay, or hypoalbuminemia.
