An Asymptomatic Heterozygous Female with Fabry Disease: Implications for Enzyme Replacement Therapy

• Inagaki Shin-ichiro

  Department of Pediatrics, Nippon Medical School

• Migita Makoto

  Department of Pediatrics, Nippon Medical School Department of Molecular and Medical Genetics, Nippon Medical School

• Hayakawa Mari

  Department of Pediatrics, Nippon Medical School

• Fujita Atushi

  Department of Pediatrics, Nippon Medical School

• Yoshida Junko

  Department of Pediatrics, Nippon Medical School

• Ishizaki Masamichi

  Department of Pathology, Nippon Medical School

• Kotani Masaharu

  Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science

• Sakuraba Hitoshi

  Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science

• Shimada Takashi

  Department of Molecular and Medical Genetics, Nippon Medical School

• Murakami Mutsumi

  Department of Pediatrics, Nippon Medical School

• Fukunaga Yoshitaka

  Department of Pediatrics, Nippon Medical School

抄録

We report an asymptomatic female with Fabry disease immunohistochemically diagnosed by renal biopsy. She was initially diagnosed as having nephrotic syndrome, and renal biopsy was performed for pathological diagnosis. The renal specimen revealed non-specific findings (minor glomerular abnormalities) for nephrotic syndrome. Numerous laminated bodies in glomerular epithelial cells in electron microscopic findings and accumulations of ceramidetrihexoside immunohistochemically were observed and she was diagnosed with Fabry disease. However, no other laboratory data or clinical findings supported the diagnosis of Fabry disease. Since the efficacy of recombinant human alpha-galactosidase replacement therapy in this disease has been reported, whether enzyme replacement therapy for subclinical Fabry female patients is indicated or not is an important issue.<br>

収録刊行物

• 日医大誌

  日医大誌 72 (6), 387-390, 2005

  日本医科大学医学会

キーワード

• Fabry disease
• enzyme replacement therapy
• asymptomatic heterozygote
• immunohistochemical diagnosis

詳細情報

• CRID: 1390282680071690880
• NII論文ID: 130004146823
• NII論文ID: 80017707018
• DOI: 10.1272/jnms.72.387
• ISSN: 13473409
• ISSN: 13454676
• Web Site: http://www.jstage.jst.go.jp/article/jnms/72/6/72_6_387/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2006280742
• 本文言語コード: en
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