ABSTRACT

Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency disorder that affects phagocytes and is characterized by a marked increased susceptibility to severe bacterial and fungal infections. We aimed to describe the clinical presentations of pediatric patients with CGD in Upper Egypt and to identify the defective component of NADPH oxidase. Pediatric patients diagnosed with CGD within one year from January 2018 to January 2019 were enrolled in the study. Patient history, clinical and laboratory investigations were carried out, including nitroblue tetrazolium test and flow cytometry DHR analysis. Infectious microorganisms were isolated from infected sites to identify the causative agents and their resistance profile. A total of 15 patients were diagnosed with CGD. Failure to thrive and lymphadenopathy were the most common presentations. The median age of clinical onset was 1.17 years of age. The most common gene mutations were observed in the CYBA gene. All cases showed pulmonary infections followed by abscesses. Staphylococcus aureus and Klebsiella pneumoniae were the most frequently isolated bacterial pathogens, Aspergillus spp and Candida spp were isolated from fungal infections. 4/15 (26.7%) children died due to severe serious infections. We concluded that CGD is common in Upper Egypt, and we recommend raising the awareness and testing for CGD in pediatric patients with recurrent or persistent infections, especially those with a familiar history of similar manifestations to avoid delays in proper diagnosis and deterioration of cases.

Abbreviations: CGD: chronic granulomatous disease; XL: X-linked; AR: autosomal recessive

摘要

慢性肉芽肿病 (CGD) 是一种罕见的遗传性原发性免疫缺陷病，影响吞噬细胞，其特征是对严重细菌和真菌感染的易感性显着增加。我们旨在描述上埃及 CGD 儿科患者的临床表现，并确定 NADPH 氧化酶的缺陷成分。2018 年 1 月至 2019 年 1 月一年内诊断为 CGD 的儿科患者参加了该研究。进行了患者病史、临床和实验室调查，包括硝基四氮唑试验和流式细胞术 DHR 分析。从感染部位分离感染性微生物以确定病原体及其耐药性。共有 15 名患者被诊断为 CGD。发育不良和淋巴结肿大是最常见的表现。临床发病的中位年龄为 1.17 岁。在 CYBA 基因中观察到最常见的基因突变。所有病例均表现为肺部感染，随后出现脓肿。金黄色葡萄球菌和肺炎克雷伯菌是最常分离的细菌病原体，曲霉属和念珠菌属是从真菌感染中分离出来的。4/15 (26.7%) 儿童死于严重严重感染。我们得出结论，CGD 在上埃及很常见，我们建议提高对复发或持续感染的儿科患者的 CGD 的认识和检测，尤其是那些有类似表现的熟悉病史的患者，以避免延误正确诊断和病例恶化。

缩写：CGD：慢性肉芽肿病；XL：X 联动；AR：常染色体隐性遗传