通过下一代测序对神经莱姆病进行可操作诊断。
Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
机构信息
From the Departments of Biochemistry and Biophysics (M.R.W., J.L.D.), Neurology (M.R.W.), and Laboratory Medicine (S.N.N., E.S., G.Y., S.S., S.F., S.M., C.Y.C.), and the Department of Medicine, Division of Infectious Diseases (C.Y.C.), University of California, San Francisco (UCSF), and UCSF-Abbott Viral Diagnostics and Discovery Center (S.N.N., E.S., G.Y., S.S., S.F., S.M., C.Y.C.) - both in San Francisco; the Department of Medicine, Division of Allergy and Immunology (M.B., H.B., J.E.G.), and the Departments of Pathology and Laboratory Medicine (S.M.S., K.D.R.) and Pediatrics (T.L.M., C.M.S., S.L.H., J.E.G.), University of Wisconsin, Madison; the Experimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD (R.S., E.G., F.C.); the Departments of Pediatrics and Immunology, Division of Allergy and Immunology, Duke University, Durham, NC (R.H.B.); and the Centers for Disease Control and Prevention, Atlanta (R.G.).
出版信息
N Engl J Med. 2014 Jun 19;370(25):2408-17. doi: 10.1056/NEJMoa1401268. Epub 2014 Jun 4.
A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic workup including brain biopsy was unrevealing. Unbiased next-generation sequencing of the cerebrospinal fluid identified 475 of 3,063,784 sequence reads (0.016%) corresponding to leptospira infection. Clinical assays for leptospirosis were negative. Targeted antimicrobial agents were administered, and the patient was discharged home 32 days later with a status close to his premorbid condition. Polymerase-chain-reaction (PCR) and serologic testing at the Centers for Disease Control and Prevention (CDC) subsequently confirmed evidence of Leptospira santarosai infection.
一名 14 岁男孩因严重联合免疫缺陷，在 4 个月的时间内因发热和头痛三次到医疗机构就诊，病情进展为脑积水和癫痫持续状态，需要进行医学诱导昏迷。包括脑部活检在内的诊断性检查均未发现异常。对脑脊液进行的无偏下一代测序发现，3063784 条序列中 475 条（0.016%）与钩端螺旋体感染相对应。针对钩端螺旋体病的临床检测呈阴性。随后给予了靶向抗菌药物治疗，患者在 32 天后出院回家，情况接近发病前状态。疾病预防控制中心（CDC）的聚合酶链反应（PCR）和血清学检测随后证实了感染了圣罗莎钩端螺旋体。
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