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完全髓过氧化物酶缺乏症:谨防二氢罗丹明氧化的“假阳性”。

Complete Myeloperoxidase Deficiency: Beware the "False-Positive" Dihydrorhodamine Oxidation.

作者信息

Milligan Ki Lee, Mann Daphne, Rump Amy, Anderson Victoria L, Hsu Amy P, Kuhns Douglas B, Zerbe Christa S, Holland Steven M

机构信息

Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD.

出版信息

J Pediatr. 2016 Sep;176:204-6. doi: 10.1016/j.jpeds.2016.05.047. Epub 2016 Jun 11.

Abstract

Myeloperoxidase deficiency is the most common inherited phagocyte disorder (1:2000) and causes an abnormal dihydrorhodamine oxidation test, which also is seen in chronic granulomatous disease. A patient with Candida meningitis and low dihydrorhodamine oxidation signal was diagnosed with chronic granulomatous disease but actually had compound heterozygous myeloperoxidase deficiency.

摘要

髓过氧化物酶缺乏症是最常见的遗传性吞噬细胞疾病(1:2000),可导致二氢罗丹明氧化试验异常,这在慢性肉芽肿病中也可见。一名患有念珠菌性脑膜炎且二氢罗丹明氧化信号较低的患者被诊断为慢性肉芽肿病,但实际上患有复合杂合性髓过氧化物酶缺乏症。

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