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伴有溶质载体有机阴离子转运家族成员 2A1（SLCO2A1）免疫组织化学阳性的慢性肠病。

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

机构信息

Center for Diagnostic and Therapeutic Endoscopy, Keio University School of Medicine, Japan.

Department of Internal Medicine, Kensei Hospital, Japan.

出版信息

Intern Med. 2022 Sep 1;61(17):2607-2611. doi: 10.2169/internalmedicine.8939-21. Epub 2022 Feb 19.

DOI:10.2169/internalmedicine.8939-21
PMID:35185052
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9492477/
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.

摘要

常染色体隐性遗传的溶质载体有机阴离子转运家族成员 2A1 相关慢性肠病（CEAS）是一种罕见的遗传性疾病，其特征为慢性持续性贫血和低蛋白血症。其诊断通常需要进行基因分析。先前有报道称，SLCO2A1 多克隆抗体的免疫组化染色作为 CEAS 的一种诊断前工具具有一定的效果。本文报道了一例 CEAS 患者，免疫组化染色证实了 SLCO2A1 蛋白的表达。免疫阳性结果可能是由于无义介导的 RNA 降解所致。由于 SLCO2A1 蛋白的免疫组化染色可能显示免疫阳性结果，因此在强烈怀疑 CEAS 时，还应进行基因分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/db9ccac7accf/1349-7235-61-2607-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/bded8a77d5d3/1349-7235-61-2607-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/ba653bb69b8e/1349-7235-61-2607-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/325056be8ede/1349-7235-61-2607-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/dcf3baf3ab6b/1349-7235-61-2607-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/db9ccac7accf/1349-7235-61-2607-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/bded8a77d5d3/1349-7235-61-2607-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/ba653bb69b8e/1349-7235-61-2607-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/325056be8ede/1349-7235-61-2607-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/dcf3baf3ab6b/1349-7235-61-2607-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d16/9492477/db9ccac7accf/1349-7235-61-2607-g005.jpg

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Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis.伴有厚皮性骨膜病的 SLCO2A1 相关性慢性肠病。
Intern Med. 2020;59(24):3147-3154. doi: 10.2169/internalmedicine.4756-20. Epub 2020 Dec 15.
3
Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene.
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Dig Dis Sci. 2021 Sep;66(9):2992-3001. doi: 10.1007/s10620-020-06629-0. Epub 2020 Sep 30.
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Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report.一名中国幼儿先天性肠病所致隐匿性消化道出血——病例报告
BMC Pediatr. 2020 Sep 17;20(1):438. doi: 10.1186/s12887-020-02333-0.
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Estimated Prevalence of Cronkhite-Canada Syndrome, Chronic Enteropathy Associated With SLCO2A1 Gene, and Intestinal Behçet's Disease in Japan in 2017: A Nationwide Survey.2017 年日本 Cronkhite-Canada 综合征、与 SLCO2A1 基因相关的慢性肠病和肠贝赫切特病的估计患病率：一项全国性调查。
J Epidemiol. 2021 Feb 5;31(2):139-144. doi: 10.2188/jea.JE20190349. Epub 2020 Feb 22.
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