Kowalczyk Kinga, Heropolitańska-Pliszka Edyta
Department of Pediatric Urology, Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, 04-730, Poland.
Department of Immunology, Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, 04-730, Poland.
Urol Case Rep. 2023 May 1;48:102409. doi: 10.1016/j.eucr.2023.102409. eCollection 2023 May.
Chronic Granulomatous Disease is a primary immunodeficiency syndrome caused by a phagocytic defect, characterized by recurrent, life-threatening bacterial and fungal infections and an excessive inflammatory response. We present the case of a boy with disease's symptoms mainly from the genitourinary tract. We describe diagnostic difficulties and atypical cystoscopic images, which showed bright morphotic elements of unclear etiology moving in the vessels of the bladder mucosa. These lesions were retrospectively interpreted as clusters of white blood cells (granulomas). Due to the lack of description of a similar phenomenon in the literature, we would like to make the recorded endoscopic images available.
慢性肉芽肿病是一种由吞噬细胞缺陷引起的原发性免疫缺陷综合征，其特征为反复发生的、危及生命的细菌和真菌感染以及过度的炎症反应。我们报告了一例主要表现为泌尿生殖道症状的男孩病例。我们描述了诊断困难以及非典型膀胱镜图像，图像显示膀胱黏膜血管内有病因不明、形态明亮的物质移动。这些病变经回顾性分析被认为是白细胞聚集（肉芽肿）。由于文献中缺乏对类似现象的描述，我们希望公开所记录的内镜图像。
