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

Inflamm Bowel DisSep 1, 2026
Case ReportGastroenterologyPediatricsOpen access

Casey R Johnson, Lily Gillette, Qurbonali Qurbonov et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the 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.

Source

PubMed · PMID 42435330Free full text on PubMed Central

Published in Inflamm Bowel Dis. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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