Alcaptonuria: A Case Complicated with Valvular Heart Disease and Immunodeficiency
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概要
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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.(Internal Medicine 33: 512-516, 1994)
著者
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Suzushima Hitoshi
The Second Department Of Internal Medicine Kumamoto University School Of Medicine
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Mori Shunsuke
The Second Department Of Internal Medicine Ehime University School Of Medicine
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TAKATSUKI Kiyoshi
The Second Department of Internal Medicine, Kumamoto University School of Medicine
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Kakinuma Hiroaki
The Devices Technology Laboratory Oki Electric Industry Co. Ltd.
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KAWAGUCHI Tatsuya
The Second Department of Internal Medicine, Kumamoto University School of Medicine
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NAKAKUMA Hideki
The Second Department of Internal Medicine, Kumamoto University School of Medicine
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Takatsuki Kiyoshi
The Second Department Of Internal Medicine And The Transfusion Service Department Kumamoto Universit
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MORI Shunsuke
The Second Department of Internal Medicine, Kumamoto University School of Medicine
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KOGA Shin
The Second Department of Internal Medicine, Kumamoto University School of Medicine
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FUJI-I Hiromi
The Division of Cardiology, Kumamoto University School of Medicine
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TSUJI Norihide
The Second Department of Internal Medicine, Kumamoto University School of Medicine
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KAKINUMA Hiroaki
The Department of Pediatrics, Shimoshizu National Hospital Yotsukaido
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