儿童慢性肉芽肿病的诊治进展

Recent advances in diagnosis and treatment of children with chronic granulomatous disease

慢性肉芽肿病是一种因NADPH氧化酶功能障碍引起的原发性免疫缺陷病，在临床较为少见，病死率较高。典型的临床表现为儿童早期反复致命感染。慢性炎症持续存在导致局部形成肉芽肿，易引起局部梗阻。针对慢性肉芽肿病较特异的诊断方法包括：四氮唑蓝还原试验、二氢罗丹明流式细胞分析方法和基因序列分析等。目前造血干细胞移植是大多数慢性肉芽肿病治疗手段，但应选择合适的移植时机，以提高移植成功率并减少并发症。基因治疗慢性肉芽肿病长期的有效性和安全性还有待进一步深入研究。该文就近年来慢性肉芽肿病的发病机制、早期诊断技术和治疗等方面的研究进展作一综述。

Chronic granulomatous disease is a primary irnmunodeficiency caused by abnormities in the NADPH oxidase. It is rare clinically and mortality is high. Most patients present with the repeated and fatal infections. Local granuloma can easily lead to local obstruction. At present, there are several specific diagnostic methods for chronic granulomatous disease, including p-nitro-blue tetrazolium chloride, dihydrorhodamine 123 and gene sequence analysis, etc. Hematopoietic stem cell transplantation is the only radical method. Appropriate timing of transplantation is critical to improve the success rate of transplantation. Gene therapy still has a long way to clinical use due to effectiveness and safety. This review describes recent progress in the study of pathogenesis, early diagnosis, treatment of chronic granulo matous disease.