Advances of chronic enteropathy associated with SLCO2A1 gene
10.3760/cma.j.issn.1673-4408.2023.03.013
- VernacularTitle:SLCO2A1基因相关慢性肠病研究进展
- Author:
Wei YUAN
1
;
Yongkun HUANG
Author Information
1. 昆明医科大学第一附属医院儿科 650032
- Keywords:
SLCO2A1 gene;
Small intestine ulcers;
Anemia;
Hypoproteinemia
- From:
International Journal of Pediatrics
2023;50(3):200-204
- CountryChina
- Language:Chinese
-
Abstract:
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene(CEAS)is an autosomal recessive disease caused by SLCO2A1 gene mutation.Characterized by Persistent, intractable, nonspecific intestinal ulcers that lead to chronic loss of blood and protein.At present, pathogenesis of CEAS is still unclear.Endoscopic examination shows specific intestinal ulcers and intestinal stenosis, which mainly involves ileum.Due to its rare occurrence and similar clinical manifestations with Crohn′s disease and non-steroidal anti-inflammatory drug related bowel disease, it is easy to be confused clinically.No effective treatment has been established, and iron supplementation, blood transfusion and parenteral or enteral nutrition can be given symptomatic treatment.Surgical treatment is feasible in serious condition, however, all of them can only get a temporary effect.Usually, after the end of treatment, the disease relapses, and the life prognosis is not clear.
