Alcaptonuria: a case complicated with valvular heart disease and immunodeficiency.
Alcaptonuria: a case complicated with valvular heart disease and immunodeficiency.
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尿酸尿症：合并瓣膜性心脏病和免疫缺陷的一例。
DOI：
10.2169/internalmedicine.33.512
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发表时间：
1994
影响因子：
1.2
通讯作者：
Kiyoshi Takatsuki
中科院分区：
文献类型：
--
作者：
Shunsuke Mori;Tatsuya Kawaguchi;Hiroaki Kakinuma;Hiromi Fujii;Shin Koga;Hitoshi Suzushima;Norihide Tsuji;Hideki Nakakuma;Kiyoshi Takatsuki
一位75岁的男性被诊断为尿黑酸尿症的直接鉴定尿尿中使用气相色谱-质谱。并发症包括心脏瓣膜病，二维彩色多普勒超声心动图检测到明显的钙化和复发性细菌感染。免疫学分析显示，T细胞数量减少，CD 56+，CD 57+自然杀伤（NK）细胞群体代偿性扩增，细胞免疫功能受损，如植物血凝素反应，抗体依赖性细胞毒性，NK活性和白细胞介素-2的产生。认为体液免疫和中性粒细胞功能正常。这是第一次报告的情况下，alcaptonuria，以我们的知识，其中免疫异常的记录。
A 75-year-old man was diagnosed with alcaptonuria by direct identification of homogentisic acid in the urine using gas chromatography-mass spectrometry. Complications included valvular heart disease with marked calcification detected by two-dimensional color-Doppler echocardiography and recurrent bacterial infection. Immunological analyses revealed a reduced number of T cells with compensatory expansion of CD56+, CD57+ natural killer (NK) cell population and impaired functions of cellular immunity such as phytohemagglutinin response, antibody-dependent cellular cytotoxicity, NK activity and interleukin-2 production. Humoral immunity and neutrophil functions were considered to be normal. This is the first reported case of alcaptonuria to our knowledge in which immunological abnormality was documented.