Emergency Center of Hunan Children's Hospital, Changsha, China.
School of Pediatrics, Nanhua University of Hunan, Hengyang, China.
Ann Palliat Med. 2021 Jul;10(7):8437-8447. doi: 10.21037/apm-20-2056. Epub 2021 Apr 12.
This study aimed to report the clinical characteristics of penicilliosis marneffei (PSM) in three children negative to HIV. Three children were diagnosed with PSM in the Department of Emergency Medicine, Hunan Children's Hospital between February 2016 to July 2020. The clinical characteristics, laboratory findings, and concomitant diseases were recorded, and the related literatures were reviewed. The clinical characteristics and treatment of PSM were reported according to our experience and literature review. The initial symptom was right lower limb mass in 1 child (first) who developed fever and cough about 1 month later and then was misdiagnosed with tuberculosis. The other child (second) had a fever, reductions in red blood cells, white blood cells and platelets, hepatosplenomegaly and lymphadenectasis. The third child had fever, jaundice, multiple organ dysfunction syndrome (MODS), hepatosplenomegaly and lymphadenectasis. The first child (Case 1) had STAT1 gene mutation on genetic examination, and the second child (Case 2) had history of onychomycosis and oral ulcer, the third child (Case 3) had STAT3 gene mutation on genetic examination, diagnosed with Hyperimmunoglobulin E syndromes (HIES). PSM was confirmed in all cases by the culture bone marrow. All three cases were diagnosed through medulloculture. Case 1 and Case 2 also had lymph node biopsy. Case 3 had sputum culture and bronchoalveolar lavage fluid (BALF). The first child was intravenously administered with voriconazole and amphotericin B liposomes, and orally administered with itraconazole for maintenance therapy, which was discontinued 1 year later. The second child was administered with voriconazole intravenously and thereafter orally for a total of 7 months. Recurrence was not observed. The third child was given amphotericin B for 2 days (discontinued due to liver dysfunction), and intravenous voriconazole for 4 days. The patient gave up therapy finally. In conclusion, HIV negative children can also develop PSM, and may be related to the STAT1/STAT3 gene mutation. For children having no response to antibiotic or antiviral therapy, bacterial/fungal culture or biopsy should be performed as soon as possible to confirm the diagnosis, and physicians should actively identify the underlying diseases of PSM patients, which is beneficial for the early diagnosis, early treatment and improvement of prognosis.
本研究旨在报告三例 HIV 阴性儿童患马尔尼菲青霉菌病（PSM）的临床特征。2016 年 2 月至 2020 年 7 月，湖南儿童医院急诊部诊断了 3 例 PSM 患儿。记录了患儿的临床特征、实验室检查结果和伴随疾病，并复习了相关文献。根据我们的经验和文献复习，报告了 PSM 的临床特征和治疗方法。1 例患儿（病例 1）以右下肢体块为首发症状，1 个月后出现发热、咳嗽，误诊为肺结核；另 1 例患儿（病例 2）以发热、红细胞、白细胞和血小板减少、肝脾肿大和淋巴结肿大为主要表现；第 3 例患儿（病例 3）以发热、黄疸、多器官功能障碍综合征（MODS）、肝脾肿大和淋巴结肿大为主要表现。第 1 例患儿（病例 1）基因检查发现 STAT1 基因突变，第 2 例患儿（病例 2）有甲真菌病和口腔溃疡病史，第 3 例患儿（病例 3）基因检查发现 STAT3 基因突变，诊断为高免疫球蛋白 E 综合征（HIES）。所有病例均通过骨髓培养确认 PSM，所有 3 例均通过骨髓培养诊断。病例 1 和病例 2 还进行了淋巴结活检，病例 3 进行了痰培养和支气管肺泡灌洗液（BALF）检查。第 1 例患儿静脉注射伏立康唑和两性霉素 B 脂质体，口服伊曲康唑维持治疗，1 年后停药。第 2 例患儿静脉注射伏立康唑，共 7 个月，未复发。第 3 例患儿给予两性霉素 B 2 天（因肝功能异常而停药），静脉注射伏立康唑 4 天，最终放弃治疗。总之，HIV 阴性儿童也可能发生 PSM，可能与 STAT1/STAT3 基因突变有关。对于对抗生素或抗病毒治疗无反应的儿童，应尽快进行细菌/真菌培养或活检以明确诊断，医生应积极识别 PSM 患者的潜在疾病，这有利于早期诊断、早期治疗和改善预后。
