Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) with Positive Immunohistochemistry for SLCO2A1 Protein

与溶质载体有机阴离子转运蛋白家族成员 2A1 (SLCO2A1) 相关的慢性肠病,SLCO2A1 蛋白免疫组织化学检测呈阳性

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作者: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

Abstract

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.

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