Dably Assma, Benhssaein Ibtihal, El Bakkouri Jalila, Drissi Bourhanbour Asmaa, Jeddane Leila, Aziz Bousfiha Ahmed, Ailal Fatima
Laboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Department of pediatric infectious and immunological diseases, Abderrahim El Harouchi Children's Hospital, University Hospital Center Ibn Rochd, Casablanca, Morocco.
Qatar Med J. 2025 Mar 21;2025(1):14. doi: 10.5339/qmj.2025.14. eCollection 2025.
Chronic granulomatous disease (CGD) is a primary immunodeficiency due to alterations in the oxidative metabolism of phagocytic cells. This condition is characterized by serious and recurrent infections caused by pyogenic bacteria, particularly , and fungal pathogens such as . These infections are associated with granuloma formation and inflammatory manifestations.The aim of our study was to report the clinical characteristics, microbiological aspects and outcomes, and prognosis of a cohort comprising 42 Moroccan patients suffering from CGD.
A total of 42 patients were diagnosed for family history, consanguinity, and both clinical and laboratory findings.The diagnosis was confirmed by assessing neutrophil oxidative burst activity, using either the nitroblue tetrazolium (NBT) test or the dihydrorhodamine (DHR) test.
The cohort comprised children from 34 different families, including 12 siblings. The age of onset ranged from 4 days to 13 years, with the diagnosis being established between the ages of 25 days and 13 years. The predominant clinical manifestations were skin infections, lymphadenopathy, pneumonia, BCGitis, liver abscess, pulmonary aspergillosis, and inflammatory colitis. The most frequently isolated germs were , , and . Among the total of 42 patients, 17 fatalities occurred, with aspergillosis being identified as the primary cause of their deaths.
In this study, the clinical characteristics and isolated microorganisms correspond to the pathogens known to be important in CGD. Lung infections represent the most prevalent complication and significantly contribute to high mortality rates, particularly in the case of pneumonia, which is known for its tendency to disseminate. Additionally, BCGitis has been frequently observed in countries where the BCG (Bacille Calmette-Guérin) vaccination is routinely administered. Enterocolitis emerges as the most common inflammatory complication in clinical settings. Unfortunately, CGD remains largely unknown in Morocco, highlighting the urgent need to raise awareness among doctors. This increased awareness could facilitate early diagnosis and improve patient prognosis.
慢性肉芽肿病（CGD）是一种由于吞噬细胞氧化代谢改变引起的原发性免疫缺陷病。这种疾病的特征是由化脓性细菌，特别是[未提及具体细菌名称]，以及真菌病原体如[未提及具体真菌名称]引起的严重且反复的感染。这些感染与肉芽肿形成和炎症表现相关。我们研究的目的是报告42例患有CGD的摩洛哥患者队列的临床特征、微生物学情况及结局和预后。
共42例患者因家族史、近亲结婚以及临床和实验室检查结果被诊断。通过使用硝基蓝四氮唑（NBT）试验或二氢罗丹明（DHR）试验评估中性粒细胞氧化爆发活性来确诊。
该队列包括来自34个不同家庭的儿童，其中有12对兄弟姐妹。发病年龄范围为4天至13岁，诊断确立年龄在25天至13岁之间。主要临床表现为皮肤感染、淋巴结病、肺炎、卡介苗病、肝脓肿、肺曲霉病和炎症性结肠炎。最常分离出的病菌是[未提及具体病菌名称]、[未提及具体病菌名称]和[未提及具体病菌名称]。在42例患者中，17例死亡，曲霉病被确定为主要死因。
在本研究中，临床特征和分离出的微生物与已知在CGD中重要的病原体相符。肺部感染是最常见的并发症，且显著导致高死亡率，特别是在[未提及具体肺炎类型]肺炎的情况下，其以易于播散著称。此外，在常规接种卡介苗（Bacille Calmette-Guérin）的国家中，卡介苗病经常被观察到。在临床环境中，小肠结肠炎成为最常见的炎症并发症。不幸的是，CGD在摩洛哥仍然很大程度上不为人知，这凸显了提高医生认识的迫切需求。这种认识的提高有助于早期诊断并改善患者预后。
