title: Alcaptonuria: a case complicated with valvular heart disease and immunodeficiency.
abstract: 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.
authors: Second Department of Internal Medicine, Kumamoto University School of Medicine.
authors: S
authors: S
authors: Mori
authors: T
authors: T
authors: Kawaguchi
authors: H
authors: H
authors: Kakinuma
authors: H
authors: H
authors: Fuji-i
authors: S
authors: S
authors: Koga
authors: H
authors: H
authors: Suzushima
authors: N
authors: N
authors: Tsuji
authors: H
authors: H
authors: Nakakuma
authors: K
authors: K
authors: Takatsuki
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000150:complications* / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry; D006349:Heart Valve Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D006713:Homogentisic Acid / Q000652:urine; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D008297:Male; D009794:Ochronosis / Q000150:complications; D014463:Ultrasonography
chemical_list: D006713:Homogentisic Acid