A Case of Fabry's Disease Diagnosed in Adult

DOI Web Site 4 References
  • TATEMATSU Saori
    Department of Dermatology, Faculty of Medicine, Fukuoka University
  • IMAFUKU Shinichi
    Department of Dermatology, Faculty of Medicine, Fukuoka University
  • MORI Tatsuki
    Department of Dermatology, Faculty of Medicine, Fukuoka University
  • ITO Kotaro
    Department of Dermatology, Faculty of Medicine, Fukuoka University
  • KOGA Monji
    Department of Dermatology, Faculty of Medicine, Fukuoka University
  • NAKAYAMA Juichiro
    Department of Dermatology, Faculty of Medicine, Fukuoka University
  • KOGA Kaori
    Department of Pathology, Faculty of Medicine, Fukuoka University
  • WATANABE Renya
    Department of Nephrology and Rheumatology, Faculty of Medicine, Fukuoka University
  • TAKAHATA Masafumi
    Department of Nephrology and Rheumatology, Faculty of Medicine, Fukuoka University

Bibliographic Information

Other Title
  • 成人期になり顕症化したFabry病の1例
  • 症例 成人期になり顕症化したFabry病の1例
  • ショウレイ セイジンキ ニ ナリ ケンショウカ シタ Fabryビョウ ノ 1レイ

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Description

A 33-year-old man was referred to our outpatient clinic because of proteinuria found by a regular medical checkup. He was further referred to our department of dermatology because multiple red papules were found on his thighs and trunk on a physical examination. A biopsy specimen of the papule showed dilated capillary dermis with elongated rete ridges, establishing the diagnosis of angiokeratoma. Electron microscopy revealed electron dense granules (Zebra body) in the endothelial cells of dermis and renal glomerular epithelial cells. Alpha galactosidase A activity was less than 1% of healthy control, and the patient was diagnosed as having Fabry's disease. Genetic analysis revealed a nonsense mutation in the 237 th codon of Exon 6 of the GLA gene. Despite the very low alpha galactosidase activity, the patient had minimal damage of the internal organs due to the precipitation of the globotriaosyl ceramide.

Journal

  • Nishi Nihon Hifuka

    Nishi Nihon Hifuka 74 (3), 248-251, 2012

    Western Division of Japanese Dermatological Association

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