Хронічна ентеропатія, асоційована з геном SLCO2A1
ORPHA:468641· ICD-10 K63.8· Chronic enteropathy associated with SLCO2A1 gene
Визначення(English summary)
A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood