Синдром гіперактивації комплементу - ангіопатичний тромбоз - ентеропатія з втратою білка
ORPHA:566175· ICD-10 D84.1· Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Визначення(English summary)
A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy