[Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene].
Zhonghua Nei Ke Za Zhi
; 60(1): 45-50, 2021 Jan 01.
Article
en Zh
| MEDLINE
| ID: mdl-33397021
ABSTRACT
Objective:
To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1 gene (CEAS).Methods:
Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study. The clinical manifestations, laboratory test, radiological and endoscopic findings, gene detections, treatments and prognosis of these patients were reviewed and analyzed.Results:
Five male patients presented gastrointestinal symptoms after puberty, including abdominal pain, diarrhea, intermittent melena or hematochezia, incomplete bowel obstruction, anemia, hypoalbuminemia and hypokalemia. The whole gastrointestinal tract except esophagus could be involved, especially the stomach and ileum. Intestinal lesions were characterized by multiple shallow ulcers with stenosis in the layers of mucosa and submucosa. Five patients were all accompanied with primary hypertrophic osteoarthropathy (PHO), and 1 with myelofibrosis and thoracic duct dysplasia. All patients were homozygous or compound heterozygous mutations of SLCO2A1 gene. Conventional treatment of inflammatory bowel disease and COX-2 inhibitors were ineffective.Conclusions:
CEAS is an autosomal recessive genetic disease which widely involves the gastrointestinal tract, and can be associated with skin and bone involvement. There is no effective treatment for CEAS at present. CEAS is a different entity from other inflammatory gastrointestinal diseases.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteoartropatía Hipertrófica Primaria
/
Enfermedades Inflamatorias del Intestino
/
Transportadores de Anión Orgánico
/
Enfermedades Gastrointestinales
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Nei Ke Za Zhi
Año:
2021
Tipo del documento:
Article
País de afiliación:
China