Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features.

IF 5.5 3区医学 Q1 GASTROENTEROLOGY & HEPATOLOGY

Inflammatory Bowel Diseases Pub Date : 2026-09-01 DOI:10.1093/ibd/izag137

Casey R Johnson, Lily Gillette, Qurbonali Qurbonov, Abigail Plone, Stefanie S Schmieder, Michael Anderson, Katie Cibelli, Yanjia Jason Zhang, Krishnan Raghunathan, Michael Field, Alka Goyal, Stacy A Kahn, Scott B Snapper, Jocelyn A Silvester, Jay R Thiagarajah

引用次数: 0

Abstract

We describe biochemically and functionally validated primary bile acid malabsorption caused by novel biallelic SLC10A2 variants in a child initially diagnosed with Crohn's disease. Pediatric IBD cohort reanalysis identified PBAM-compatible genotypes, supporting selective testing when clinical features are suggestive.

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新的SLC10A2变异诱导原发性胆汁酸吸收不良和具有ibd样特征的生态失调。

我们描述了一名最初诊断为克罗恩病的儿童中由新型双等位基因SLC10A2变异引起的原发性胆汁酸吸收不良的生化和功能验证。儿科IBD队列再分析确定了与pbam相容的基因型，支持在临床特征具有提示性时进行选择性检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Inflammatory Bowel Diseases 医学-胃肠肝病学

CiteScore

9.70

自引率

6.10%

发文量

462

审稿时长

1 months

期刊介绍： Inflammatory Bowel Diseases® supports the mission of the Crohn''s & Colitis Foundation by bringing the most impactful and cutting edge clinical topics and research findings related to inflammatory bowel diseases to clinicians and researchers working in IBD and related fields. The Journal is committed to publishing on innovative topics that influence the future of clinical care, treatment, and research.