宏基因组二代测序技术辅助诊断内脏利什曼病1例

Auxiliary diagnosis of visceral leishmaniasis with metagenomic next-genera-tion sequencing:a case report

1例患者因“反复高热、肝脾肿大、伴全血细胞减少待查”收住入院,排除细菌、病毒、真菌感染及血液系统疾病后,采集患者外周血行宏基因组二代测序,结果显示婴儿利什曼原虫感染。rk39快速诊断试剂检测显示抗利什曼原虫抗体阳性,骨髓涂片检出利什曼原虫无鞭毛体,最终确诊为内脏利什曼病。给予葡萄糖酸锑钠、激素进行抗感染、保肝、升白细胞等治疗及个性化护理后,患者康复出院。宏基因组测序技术在不明原因发热患者病因检测中具有重要价值,值得临床推广应用。

This case report summarizes the experience from diagnosis and treatment of a patient with repeated high fever,hepatosplenomegaly and pancytopenia.Following exclusion of bacterial,viral,fungal infections and hematological diseases,metagenomic next-generation sequencing of the patient’s peripheral blood revealed Leishmania infantum infection,and rK39 rapid diagnostic test showed positive for anti-Leishmania antibody,while microscopic examination of bone marrow smears identified Leishmania amastigotes.Therefore,the case was definitively diagnosed as visceral leishmaniasis,and given anti-infective treatment with sodium antimony gluconate and hormone,hepatoprotection,elevation of white blood cell counts and personalized nursing.Then,the case was cured and discharged from hospital.Metagenomic next-generation sequencing is of great value in etiological detection of fever patients with unknown causes,which deserves widespread clinical applications.