Abstract
Chronic enteropathy associated with solute carrier organic anion transporter family, member 2A1 (SLCO2 A1) (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.
Original language | English |
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Pages (from-to) | 2607-2611 |
Number of pages | 5 |
Journal | Internal Medicine |
Volume | 61 |
Issue number | 17 |
DOIs | |
Publication status | Published - 2022 |
Keywords
- balloon-assisted enteroscopy
- chronic enteropathy associated with SLCO2A1 gene
- small intestine
- video capsule endoscopy
ASJC Scopus subject areas
- Internal Medicine