CASE REPORT article
Front. Pediatr.
Sec. Pediatric Gastroenterology, Hepatology and Nutrition
A Case of Severe Gastric Atrophy with a Novel Homozygous Variant in LRBA Gene
Provisionally accepted
- West China Second University Hospital, Sichuan University, Chengdu, China
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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 (LRBA). This mutation led to the loss of normal protein function via nonsense-mediated decay of mRNA or premature termination of the encoded amino acid sequence. This case elucidates a distinct and severe phenotype form of atrophic gastritis caused by the c.229_230del; p.Gln77Valfs*2 homozygous mutation in LRBA, expanding the clinical spectrum of LRBA deficiency. 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.
Keywords: Severe Gastric Atrophy, novel homozygous variant, LRBA gene, Pediatric patient, Treatment
Received: 19 Jun 2025; Accepted: 31 Oct 2025.
Copyright: © 2025 Yuan, Li, Tong and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yu Tong, zisu_yu@163.com
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