| 李甜,褚亚娟,帅金凤,等.儿童慢性肉芽肿病 4例临床分析及文献复习[J].安徽医药,2025,29(4):737-742. |
| 儿童慢性肉芽肿病 4例临床分析及文献复习 |
| Chronic granulomatous disease in children: clinical analysis and literature review of 4 cases |
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| DOI：10.3969/j.issn.1009-6469.2025.04.021 |
| 中文关键词: 肉芽肿病，慢性 X染色体 基因突变 反复呼吸道感染 曲霉菌 |
| 英文关键词: Granulomatous disease,chronic X Chromosome Gene mutation Recurrent respiratory tract infection Aspergillus |
| 基金项目:河北省卫生健康委医学科学研究课题项目( 20220040) |
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| 中文摘要: |
| 目的提高对儿童慢性肉芽肿病( chronic granulomatous disease，CGD)的认识和诊断能力，减少误诊、漏诊。方法收集 2017年 12月至 2022年 2月于河北省儿童医院住院治疗的 4例 CGD病儿的临床资料，对其基本信息、临床表现、实验室检查、影像学、基因检测、治疗及随访情况进行回顾性分析。结果 4例 CGD病儿均为男性，确诊年龄 2例为 2岁、 2例为 3岁， 4例均有反复肺炎表现，皮肤或肛周脓肿 2例( 50%)反复腹泻 3例( 75%)脓毒症 1例( 25%)骨髓炎 1例( 25%)，炎症性肠病 1例( 25%)口腔溃疡 2例( 50%)结核感染 1例(2，5%)真菌感染 3例(7，5%)细菌感染 4例(，100%)。胸部 CT提示纵隔及肺门淋巴结肿，大 3例，纵隔淋巴结钙，化 1例，肺实变 3例，，多发结节影 1例，多发，高密度影及磨玻璃影 1例，骨质破坏 1例。 4例均进行了基因检测，均为 CYBB基因突变，母亲均为携带者。对于 4例病儿的急性感染，根据病原学检查及药敏结果分别给予抗细菌治疗、抗真菌治疗及抗结核治疗。经治疗， 4例病儿均好转出院。结论对于临床上出现反复肺炎(细菌或合并真菌感染)、皮肤软组织感染、结核感染、淋巴结炎、肺部影像学结节性改变的病儿需警惕 CGD，行基因测序有助于确诊。 |
| 英文摘要: |
| Objective To improve the knowledge and diagnostic ability of chronic granulomatous disease (CGD) in children and to re.duce misdiagnosis and missed diagnosis.Methods Clinical data of 4 children with CGD admitted to Hebei Children's Hospital fromDecember 2017 to February 2022 were collected.The general information,clinical features, laboratory tests, imaging features, genetictests, treatment and prognosis were analyzed retrospectively.Results All the 4 CGD children were male, 2 cases diagnosed at 2 yearsold and 2 at 3 years old. All the 4 children had recurrent pneumonia, with skin or perianal abscess in 2 cases (50%), recurrent diarrheain 3 cases (75%), sepsis in 1 case (25%), osteomyelitis in 1 case (25%), inflammatory bowel disease in 1 case (25%), and oral ulcers in 2 cases (50%), tuberculosis infection in 1 case (25%), fungal infection in 3 cases (75%),and bacterial infection in 4 cases (100%). ChestCT showed calcification of mediastinal lymph nodes in 1 case, enlargement of mediastinal and hilar lymph nodes in 3 cases, lung con.solidation in 3 cases, multiple nodules in 1 case, multiple high-density and ground glass shadows in 1 case, and bone destruction in 1case. All 4 cases were tested for CYBB gene mutation and their mothers were carriers. For 4 cases of acute infection, antibacterial thera.py, antifungal therapy and antituberculous therapy were given according to etiological examination and drug sensitivity results. Aftertreatment, all 4 cases were discharged from hospital.Conclusion Children with recurrent pneumonia (bacterial or fungal infection),skin and soft tissue infection, tuberculosis infection, lymphadenitis, and nodular changes in lung imaging should be suspected to haveCGD, and gene sequencing is helpful for diagnosis. |
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