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. 2024 Jun 18;24(1):396.
doi: 10.1186/s12887-024-04877-x.

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease

Jin Gyu Lim  1 , Jae Sung Ko  1 , Jung Min Ko  1 , Hyun Young Kim  2 , Man Jin Kim  3 , Moon Woo Seong  3 , Young Hun Choi  4 , Gyeong Hoon Kang  5 , Jaemoon Koh  5 , Jin Soo Moon  6
Affiliations

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease

Jin Gyu Lim et al. BMC Pediatr. .

Abstract

Background: Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a unique type of inflammatory bowel disease. CEAS is monogenic disease and is thought to develop from childhood, but studies on pediatric CEAS are scarce. We analyzed characteristics of pediatric CEAS.

Methods: Eleven patients diagnosed with CEAS at Seoul National University Children's Hospital were identified and analyzed. Clinical data of patients were collected. Sanger sequencing of SLCO2A1 was performed on all patients.

Results: Patients were diagnosed at a median age of 16.0 years (IQR 11.0 ~ 20.0), and the median age at symptoms onset was only 4.0 years (IQR 2.5 ~ 6.0). Growth delay was observed at the time of diagnosis. Patients showed multiple ulcers or strictures in the small intestine, while the esophagus and colon were unaffected in any patients. Almost half of the patients underwent small intestine resection. The major laboratory features of pediatric CEAS include iron deficiency anemia (IDA), hypoalbuminemia, and near-normal levels of C-reactive protein (CRP). Two novel mutations of SLCO2A1 were identified. The most prevalent symptoms were abdominal pain and pale face. None of the immunomodulatory drugs showed a significant effect on CEAS.

Conclusions: Pediatric CEAS typically develop from very young age, suggesting it as one type of monogenic very early onset inflammatory bowel disease. CEAS can cause growth delay in children but there is no effective treatment currently. We recommend screening for SLCO2A1 mutations to pediatric patients with chronic IDA from a young age and small intestine ulcers without elevation of CRP levels.

Keywords: Human; Inflammatory bowel disease; Intestine; SLCO2A1 gene; Small.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
A An active ulcer in a capsule endoscopic image. B Encircling ulcers with bleeding in a capsule endoscopic image. C Encircling ulcers causing a luminal stricture, leading to retention of the capsule endoscopy. D A scanned view of an intestinal specimen demonstrating focal ulceration with mucosal and submucosal fibrosis. E A magnified view showing focal inflamed granulation tissue, which are indicative of chronic inflammatory changes
Fig. 2
Fig. 2
A A deep large ulcer on the prepyloric area. B A broad large ulcer on the duodenal bulb. C An upper gastrointestinal series (UGIS) image showing pyloric stenosis (white arrow). D An UGIS Image showing a deformed duodenal bulb with ulceration (white arrow)
See this image and copyright information in PMC

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