- 著者
- Chizuru Ariake Naoki Hosoe Hinako Sakurai Anna Tojo Yukie Hayashi Kenji JL Limpias Kamiya Tomohisa Sujino Kaoru Takabayashi Kenjiro Kosaki Satowa Seki Tadakazu Hisamatsu Haruhiko Ogata Takanori Kanai
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- pp.8939-21, (Released:2022-02-19)
- 参考文献数
- 16
- 被引用文献数
- 3
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.