Meshaal S, El Hawary R, Abd Elaziz D, Alkady R, Galal N, Boutros J, Elmarsafy A
Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Allergol Immunopathol (Madr). 2015 May-Jun;43(3):279-85. doi: 10.1016/j.aller.2014.11.003. Epub 2015 Mar 19.
Chronic granulomatous disease (CGD) is an inherited disease that results from a defect in the phagocytic cells of the immune system. It is caused by defects in one of the major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The clinical presentations of CGD patients are heterogeneous.
This is the first report from Egypt discussing clinical and laboratory data of twenty-nine patients (from 26 families) with CGD from a single tertiary referral centre.
There were twenty male and nine female patients. The consanguinity rate was 76% (19/25). Their age of diagnosis ranged from 2 to 168 months with a mean of 52.8 months ± 49.6 SD. The most common manifestations were abscesses in 79.3% (deep organ abscesses in 37.9% of patients), followed by pneumonia in 75.8% and gastrointestinal symptoms in 27.5%. Rare but fatal complications were also reported among patients as one patient developed haemophagocytic lymphohistiocytosis (HLH) syndrome. Although X linked-CGD universally constitutes the most common pattern of inheritance; only 6 of our patients 6/25 (24%) belonged to this group with a Stimulation Index (SI) of 1-5, and confirmed by carrier pattern of their mothers. Mothers were not available for testing in four male children. Nineteen patients (76%) had autosomal recessive patterns; ten males and nine females patients based on having abnormal SI, positive history of consanguinity and their mothers showing normal SI.
Increasing the awareness of physicians about symptoms of CGD may lead to earlier diagnosis of the disease, thus enhancing proper management and better quality of life.
慢性肉芽肿病（CGD）是一种遗传性疾病，由免疫系统吞噬细胞缺陷引起。它是由烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合物的主要亚基之一的缺陷所致。CGD患者的临床表现具有异质性。
这是埃及的首份报告，讨论了来自单一三级转诊中心的29例（来自26个家庭）CGD患者的临床和实验室数据。
有20例男性患者和9例女性患者。近亲结婚率为76%（19/25）。他们的诊断年龄在2至168个月之间，平均为52.8个月±49.6标准差。最常见的表现是脓肿，占79.3%（37.9%的患者为深部器官脓肿），其次是肺炎，占75.8%，胃肠道症状占27.5%。患者中还报告了罕见但致命的并发症，有1例患者发生了噬血细胞性淋巴组织细胞增生症（HLH）综合征。虽然X连锁CGD普遍是最常见的遗传模式；但我们的患者中只有6例（6/25，24%）属于该组，刺激指数（SI）为1 - 5，并通过其母亲的携带者模式得到证实。4名男童的母亲无法进行检测。19例患者（76%）具有常染色体隐性遗传模式；根据SI异常、近亲结婚阳性史以及其母亲SI正常，确定有10例男性患者和9例女性患者。
提高医生对CGD症状的认识可能会导致该病的早期诊断，从而加强合理管理并改善生活质量。
