慢性肉芽肿病;三种不同的临床表现——

M. H. Celiksoy, Mustafa Yavuz Köker, G. Şensoy, N. Belet, M. Ceyhan, A. Yıldıran
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引用次数: 2

摘要

慢性肉芽肿病是一种烟酰胺-腺嘌呤二核苷酸磷酸氧化酶的遗传性疾病,导致细胞内杀死摄入的微生物的缺陷,其特征是反复发生危及生命的细菌和真菌感染。这种疾病是根据NADPH氧化酶的特定亚基突变来分类的。有一种x连锁和四种常染色体隐性形式的疾病。从慢性肉芽肿病患者的病变中培养的微生物通常产生过氧化氢酶,包括葡萄球菌、大肠杆菌、沙雷氏菌;或真菌,如曲霉。复发性或严重感染通常在儿童早期导致疾病诊断。我们报告三名男性患者,分别诊断为5岁,10岁,13岁,表现出不同的临床表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Chronic granulomatous disease; Three different clinical presentation -
Chronic granulomatous disease is an inherited disorder of nicotinamide-adenine dinucleotide phosphate oxidase and results in a defect in intracellular killing of ingested microorganisms characterized by recurrent life threatening bacterial and fungal infections. The disease is classified by mutations in specific subunits of the NADPH oxidase enzyme. There are one X-linked and four autosomal recessive forms of disease. The organisms cultured from lesion of patients with chronic granulomatous disease are generally catalase-producing including Staphylococci, Escherichia coli, Serratia; or fungi such as Aspergillus species. Recurrent or serious infections usually lead to diagnosis of disease in early childhood. We report three male patients who were diagnosed 5, 10, 13 years old, respectively and showed different clinical presentation.
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