目的 探讨非HIV马尔尼菲篮状菌感染患儿的临床特征和诊治方案,以提高儿童马尔尼菲篮状菌感染的诊疗水平。方法 回顾性分析23例马尔尼菲篮状菌感染的非HIV患儿的临床资料,总结其人口学特征、临床表现、实验室检查、并发症、治疗及转归。结果 23例患儿中男15例、女8例,年龄3个月~13岁(中位年龄22个月)。最常见的临床特征为发热（22/23,95.7%）、咳嗽（18/23,78.3%）和肝肿大(18/23,78.3%)等,此外皮肤受累9例（39.1%）。常见的严重并发症包括脓毒性休克（13/23,56.5%）、噬血细胞综合征（12/23,52.2%）、急性呼吸窘迫综合征（11/23,47.8%）、多器官功能障碍综合征（10/23,43.5%）等。7例患儿IgG下降,6例IgM升高,9例IgE升高,13例NK细胞计数下降。对11例患儿进行基因检测,发现6例有原发免疫缺陷病。87.0%患儿（20/23）经血培养证实马尔尼菲篮状菌感染,其中9例同时经骨髓培养证实,另2例分别通过皮肤活检和肺泡灌洗液高通量测序技术（NGS）确诊。20例患儿给予抗真菌治疗。最终12例（52.2%）死亡,其中9例已接受了抗真菌治疗。结论 马尔尼菲篮状菌在非HIV儿童临床表现不典型,严重并发症多,病死率高。早期识别并进行血培养和骨髓培养可提高检出率,体液尤其是肺泡灌洗液NGS是可期待的检测手段。早期发现、早期治疗可能有助于改善患儿的预后。

Objective To explore clinical characteristics and treatment of Talaromyces marneffei (T. marneffei) infection in HIV-negative children, so as to improve the diagnosis of T. marneffei infection in children. Methods The clinical data of 23 HIV-negative children with T. marneffei infection were retrospectively analyzed, and the demographic characteristics, clinical manifestations, laboratory tests, complications, treatment and outcome were summarized. Results Twenty-three children (15 boys and 8 girls) were included, with a median age of 22 months (3 months to 13 years). The main clinical features were fever (22/23, 95.7%), cough (18/23,78.3%) and hepatomegaly (18/23,78.3%), and skin involvement was found in 9 cases (39.1%). Common severe complications included septic shock (13/23, 56.5%), hemophagocytic syndrome (12/23, 52.2%), acute respiratory distress syndrome (11/23, 47.8%) and multiple organ dysfunction syndrome (10/23, 43.5%). Serum IgG decreased in 7 cases, IgM increased in 6 cases, IgE increased in 9 cases, and NK cell count decreased in 13 cases. Eleven children were tested by genetic testing and 6 of them were found to have primary immunodeficiency disease. T. marneffei was cultured from specimens of blood in 87% cases (20/23). Nine of them were also confirmed by bone marrow culture. Another two cases were diagnosed by skin biopsies and next-generation sequencing (NGS) of alveolar lavage fluid, respectively. Twenty cases received antifungal therapy. Twelve cases (52.2%) died at last, though 9 of them had received antifungal therapy. Conclusions The clinical manifestations of HIV-negative children with T. marneffei infection were not typical with serious complications and high mortality rate. Early identification and blood culture and bone marrow culture can improve the detection rate, and fluid NGS, especially alveolar lavage fluid, is a promising detection method. Early detection and timely treatment may help to improve the prognosis of T. marneffei infection.