Rawat Amit, Bhattad Sagar, Singh Surjit
Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Indian J Pediatr. 2016 Apr;83(4):345-53. doi: 10.1007/s12098-016-2040-3. Epub 2016 Feb 11.
Chronic granulomatous disease (CGD) is the most common symptomatic phagocytic defect. It is caused by mutations in genes encoding protein subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. CGD is characterized by a defective intracellular killing of phagocytosed organisms due to a defective oxidative burst in the neutrophils and macrophages. It is inherited in either X-linked recessive or autosomal recessive pattern. Staphylococcus aureus and Aspergillus species are the most common organisms reported. Infections with Burkholderia, Serratia, and Nocardia warrant a screen for CGD. Suppurative lymphadenitis, cutaneous abscesses, pneumonia and diarrhea constitute the most common problems in children with CGD. A small percentage of children develop autoimmune manifestations (e.g., rheumatoid arthritis, systemic lupus erythematosus, colitis, autoimmune hepatitis) and warrant immunosuppression. X-linked carriers of CGD are at an increased risk of developing autoimmune diseases. Nitroblue-tetrazolium dye reduction test and dihydro-rhodamine assay by flow cytometry are the screening tests for this disorder. While most children do well on long term antibiotic and antifungal prophylaxis, those with severe forms warrant hematopoietic stem cell transplant. The role of regular interferon-γ injections is debatable. Evidence for white cell transfusions is sparse, and gene therapy is under trial.This current review highlights various aspects and studies in CGD. X-linked form of CGD has been noted to carry a poorer prognosis compared to autosomal recessive variants. However, recent evidence suggests that outcome in CGD is determined by the amount of residual NADPH oxidase activity irrespective of mode of inheritance.
慢性肉芽肿病（CGD）是最常见的有症状的吞噬细胞缺陷病。它由编码烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合物蛋白亚基的基因突变引起。CGD的特征是由于中性粒细胞和巨噬细胞的氧化爆发缺陷，导致吞噬的生物体在细胞内杀伤存在缺陷。它以X连锁隐性或常染色体隐性模式遗传。金黄色葡萄球菌和曲霉菌种是最常报告的病原体。感染伯克霍尔德菌、沙雷菌和诺卡菌需要筛查CGD。化脓性淋巴结炎、皮肤脓肿、肺炎和腹泻是CGD患儿最常见的问题。一小部分儿童会出现自身免疫表现（如类风湿性关节炎、系统性红斑狼疮、结肠炎、自身免疫性肝炎），需要进行免疫抑制治疗。CGD的X连锁携带者患自身免疫性疾病的风险增加。硝基蓝四唑染料还原试验和流式细胞术检测二氢罗丹明是该疾病的筛查试验。虽然大多数儿童长期接受抗生素和抗真菌预防治疗效果良好，但病情严重的患儿需要进行造血干细胞移植。定期注射干扰素-γ的作用存在争议。白细胞输血的证据很少，基因治疗正在试验中。本综述重点介绍了CGD的各个方面和研究。与常染色体隐性变异相比，CGD的X连锁形式预后较差。然而，最近的证据表明，CGD的预后取决于残余NADPH氧化酶活性的量，而与遗传方式无关。
