ArticleFrontiers in pediatrics2025
Case Report: Severe gastric atrophy associated with a novel homozygous variant in
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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- Erratum issued
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Abstract
Background: The prevalence of atrophic gastritis is challenging to determine, considering that it is typically asymptomatic and that its definition and diagnosis vary among studies. Furthermore, gastric atrophy is underreported and is often considered an underdiagnosed condition in pediatrics. Case summary: This report describes the case of a 13-year-old girl who initially presented with autoimmune hemolytic anemia, followed by extensive severe gastric mucosal atrophy and erosions with severe growth retardation inconsistent with autoimmune gastritis (AIG). To our knowledge, this represents the first documented case of such an extensive and severe atrophic gastritis identified in Sichuan Province, China. Genetic analysis revealed that the patient exhibited a homozygous mutation in c.229_230del; p.Gln77Valfs*2:NM_001364905.1 in the gene encoding the lipopolysaccharide-responsive beige-like anchor protein ( Conclusion: Our findings may provide insight into the study of the mechanism of atrophic gastritis and the diagnosis and treatment of severe forms of this condition in pediatric patients.
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