Successful azathioprine treatment in an adolescent with chronic enteropathy associated with SLCO2A1 gene: A case report.
Medicine (Baltimore)
; 97(41): e12811, 2018 Oct.
Article
em En
| MEDLINE
| ID: mdl-30313113
ABSTRACT
INTRODUCTION:
Chronic nonspecific multiple ulcers of the small intestine (CNSU), an entity with female preponderance and manifestations including anemia and hypoproteinemia reflecting persistent gastrointestinal bleeding and intestinal protein loss, has been considered idiopathic. Umeno et al recently reported that CNSU is caused by loss-of-function mutations in the solute carrier organic anion transporter family member 2A1 gene (SLCO2A1) encoding a prostaglandin transporter, renaming the disorder "chronic enteropathy associated with SLCO2A1 gene mutation" (CEAS). Treatments for chronic enteropathies such as inflammatory bowel disease, including 5-aminosalicylic acid, corticosteroids, azathioprine, and anti-tumor necrosis factor-α antibody, often are ineffective in CEAS, which frequently requires surgery. CASE PRESENTATION A 14-year-old girl had refractory anemia and hypoproteinemia for more than 2 years. Video capsule endoscopy showed nonspecific jejunal and ileal ulcers with varied sizes and shapes. She was diagnosed with CEAS resulting from compound heterozygous mutation of the SLCO2A1 gene. After corticosteroid treatment without improvement, azathioprine treatment improved her anemia and edema as hemoglobin and serum protein increased. Video capsule endoscopy 1 year after initiation of azathioprine showed improvement of small intestinal ulcers.CONCLUSION:
Physicians should consider CEAS in patients with refractory anemia, hypoproteinemia, and multiple small intestinal ulcers. Why our patient responded to azathioprine but not to corticosteroids is unclear, but azathioprine might benefit some other patients with CEAS.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Úlcera Péptica
/
Azatioprina
/
Transportadores de Ânions Orgânicos
/
Imunossupressores
/
Intestino Delgado
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Medicine (Baltimore)
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Japão