Chronic Enteropathy Associated with <i>Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1)</i> with Positive Immunohistochemistry for SLCO2A1 Protein
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- Ariake Chizuru
- Center for Diagnostic and Therapeutic Endoscopy, Keio University School of Medicine, Japan Department of Internal Medicine, Kensei Hospital, Japan
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- Hosoe Naoki
- Center for Diagnostic and Therapeutic Endoscopy, Keio University School of Medicine, Japan
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- Sakurai Hinako
- Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Japan
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- Tojo Anna
- Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Japan
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- Hayashi Yukie
- Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Japan
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- JL Limpias Kamiya Kenji
- Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Japan
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- Sujino Tomohisa
- Center for Diagnostic and Therapeutic Endoscopy, Keio University School of Medicine, Japan
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- Takabayashi Kaoru
- Center for Diagnostic and Therapeutic Endoscopy, Keio University School of Medicine, Japan
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- Kosaki Kenjiro
- Center for Medical Genetics, Keio University School of Medicine, Japan
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- Seki Satowa
- Department of Gastroenterology and Hepatology, Kyorin University School of Medicine, Japan
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- Hisamatsu Tadakazu
- Department of Gastroenterology and Hepatology, Kyorin University School of Medicine, Japan
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- Ogata Haruhiko
- Center for Diagnostic and Therapeutic Endoscopy, Keio University School of Medicine, Japan
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- Kanai Takanori
- Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Japan
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抄録
<p>Chronic enteropathy associated with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) (CEAS) is a rare autosomal recessive hereditary disease characterized by chronic persistent anemia and hypoproteinemia. Its diagnosis typically requires a genetic analysis. The efficacy of immunohistochemical staining with SLCO2A1 polyclonal antibody as a pre-diagnostic tool for CEAS has been previously reported. We herein report a patient with CEAS in whom immunohistochemical staining confirmed SLCO2A1 protein expression. The immunopositive results may have been due to nonsense-mediated RNA decay. As immunohistochemical staining of SLCO2A1 protein may show immunopositive results, a genetic analysis should also be performed when CEAS is strongly clinically suspected. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 61 (17), 2607-2611, 2022-09-01
一般社団法人 日本内科学会
