Rawat Amit, Vignesh Pandiarajan, Sharma Avinash, Shandilya Jitendra K, Sharma Madhubala, Suri Deepti, Gupta Anju, Gautam Vikas, Ray Pallab, Rudramurthy Shivaprakash M, Chakrabarti Arunaloke, Imai Kohsuke, Nonoyama Shigeaki, Ohara Osamu, Lau Yu L, Singh Surjit
Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigargh, 160012, India.
Department of Medical Microbiology, Postgraduate Institute of Medical Education and Research, Chandigargh, 160012, India.
J Clin Immunol. 2017 Apr;37(3):319-328. doi: 10.1007/s10875-017-0382-x. Epub 2017 Mar 22.
Chronic granulomatous disease (CGD) is an inherited phagocytic disorder characterized by recurrent infections with usually catalase-positive organisms. Infections in CGD from developing countries are expected to be different from those in the Western countries. We report the profile of infections in children diagnosed with CGD from a tertiary care center in North India.
Case records of children diagnosed with CGD at Pediatric Immunodeficiency Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India, from August 1993 to April 2016 (23 years) were analyzed.
Thirty-eight children were diagnosed to have CGD. Median follow-up of patients was 2 years (interquartile range 0.75, 6.0). Staphylococcus aureus and Pseudomonas spp. were the two most common causative bacteria isolated. Aspergillus was the most common fungus isolated. The most common organ involved was the lung (94.7%). Liver abscesses were identified in 5 patients (13.2%), and 20 (52.6%) patients had lymphadenitis. Infections with Pseudomonas spp. were high in our cohort (15.7%) compared to the other studies. Infections with some unusual organisms (e.g., Fusarium dimerium and Chryseobacterium gleum) were also seen in our cohort. Children with X-linked CGD presented earlier and also had a greater number of infections as compared to autosomal recessive CGD.
Various socioeconomic factors coupled with the lack of awareness and paucity of readily available diagnostic facilities for primary immunodeficiencies accounted for a late clinical presentation with severe infections and increased mortality (28.9%) in our cohort. However, mortality was similar in X-linked and autosomal recessive CGD as was the number of fungal infections. The incidence of infections and mortality was significantly lower after initiation of antibacterial and antifungal prophylaxis.
慢性肉芽肿病（CGD）是一种遗传性吞噬细胞疾病，其特征为反复感染通常为过氧化氢酶阳性的微生物。预计发展中国家CGD患者的感染情况与西方国家不同。我们报告了印度北部一家三级医疗中心诊断为CGD的儿童的感染情况。
分析了1993年8月至2016年4月（23年）期间在印度昌迪加尔医学教育与研究研究生院高级儿科中心儿科免疫缺陷诊所诊断为CGD的儿童的病例记录。
38名儿童被诊断患有CGD。患者的中位随访时间为2年（四分位间距0.75，6.0）。分离出的两种最常见致病菌是金黄色葡萄球菌和假单胞菌属。分离出的最常见真菌是曲霉菌。最常受累的器官是肺（94.7%）。5例患者（13.2%）发现肝脓肿，20例患者（52.6%）有淋巴结炎。与其他研究相比，我们队列中假单胞菌属感染率较高（15.7%）。我们的队列中还发现了一些不常见微生物（如双隔镰孢菌和黏金黄杆菌）的感染。与常染色体隐性CGD相比，X连锁CGD儿童发病更早，感染次数也更多。
各种社会经济因素，加上对原发性免疫缺陷缺乏认识以及缺乏现成的诊断设施，导致我们队列中的患者临床表现较晚，伴有严重感染且死亡率增加（28.9%）。然而，X连锁和常染色体隐性CGD的死亡率以及真菌感染次数相似。开始抗菌和抗真菌预防后，感染发生率和死亡率显著降低。
