慢性肉芽肿病临床特点及预后分析
2020-02-16彭裕连谷加丽王玉蕾卢志威郑跃杰
彭裕连 谷加丽 王玉蕾 卢志威 郑跃杰
摘要：慢性肉芽腫病（CGD）大样本病例报道较少见，该病导致患者反复发生全身各部位化脓性感染，多为葡萄球菌、大肠杆菌、沙门菌属、白色念珠菌、放线菌等感染，导致化脓性淋巴结炎、鼻炎、鼻窦炎以及心包、肺、肝神经系统等化脓性炎症。可有皮肤肉芽肿，湿疹性皮炎，肝、脾大，主要累及肺部和皮肤，患者外周血中性粒细胞计数明显增多，肺部CT表现为多发结节、不规则、球形或类球形高密度影，最易出现真菌及金黄色葡萄球菌感染。CGD病死率高，一般需长期应用抗生素预防细菌和真菌感染，造血干细胞移植可明显改善 CGD 患者的预后。对于反复出现严重的肺部和皮肤细菌、真菌感染，接种卡介苗后出现皮肤破溃经久不愈，肺部CT出现多发结节，球形或类圆形密度影，均应怀疑本病的可能。我国目前关于CGD的报道较少见，本研究选择我院2004年1月～2018 年12月收治的22例CGD 患儿，经干预治疗后存活13例，死亡5例，失联4例。现对患儿的临床表现、诊断、治疗及预后情况进行总结，以期为临床上诊治该病提供参考。
关键词：慢性肉芽肿病;儿童;基因序列;真菌;金黄色葡萄球菌;造血干细胞移植
中图分类号：R725.9 文献标识码：B DOI：10.3969/j.issn.1006-1959.2020.01.064
文章编号：1006-1959（2020）01-0190-03
Clinical Characteristics and Prognosis of Chronic Granulomatous Disease
PENG Yu-lian1，GU Jia-li2，WANG Yu-lei2，LU Zhi-wei2，ZHENG Yue-jie2
（1.Department of Pediatrics，Luohu District Maternity and Child Health Hospital，Shenzhen 518019，Guangdong，China;
2.Department of Respiratory，Shenzhen Children's Hospital，Shenzhen 518026，Guangdong，China）
Abstract：Large-scale reports of chronic granulomatous disease （CGD） are rare. The disease causes recurrent purulent infections in various parts of the body， most of which are Staphylococcus， E. coli， Salmonella， Candida albicans， Actinomycetes， etc. Causes purulent lymphadenitis， rhinitis， sinusitis， and purulent inflammation such as the pericardium， lungs， and liver nervous system. There may be skin granulomas， eczema dermatitis， liver and splenomegaly， which mainly affect the lungs and skin. The patient's peripheral blood neutrophil counts increased significantly. The lung CT showed multiple nodules， irregular， spherical or spheroidal high Density shadow， the most prone to fungal and S. aureus infections. CGD has a high mortality rate. Generally long-term antibiotics are required to prevent bacterial and fungal infections. Hematopoietic stem cell transplantation can significantly improve the prognosis of patients with CGD. For recurrent severe pulmonary and skin bacterial and fungal infections， skin ulceration after BCG vaccination persists， multiple nodules appear in the lung CT， and spherical or circular density shadows should be suspected. China's current reports on CGD are rare. In this study， 22 CGD children treated in our hospital from January 2004 to December 2018 were selected. Survival of 13 cases， 5 deaths， and 4 cases of loss of contact occurred after intervention treatment. The clinical manifestations， diagnosis， treatment and prognosis of children are summarized in order to provide a reference for clinical diagnosis and treatment of the disease.
Key words：Chronic granulomatosis disease;Children;Gene sequence;Fungi;Staphylococcus aureus;Hematopoietic stem cell transplantation
慢性肉芽肿病（chronic granulomatous disease，CGD）是一种遗传性原发性免疫缺陷病，由嗜中性粒细胞和单核细胞还原型烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合物功能受损引起，其特征为反复发作和严重感染、炎症失调和自身性免疫。NADPH氧化酶由五个单元编码CYBB、CYBA、NCF1、NCF2、NCF4基因组成。……
