Neonatal onset multisystem inflammatory disease NOMID ; Causes, symptoms, Treatment скачать в хорошем качестве

Neonatal onset multisystem inflammatory disease NOMID ; Causes, symptoms, Treatment

Neonatal-Onset Multisystem Inflammatory Disease (NOMID) Neonatal-Onset Multisystem Inflammatory Disease (NOMID) is a rare autoinflammatory disorder that presents at birth or in early infancy. It is the most severe form of Cryopyrin-Associated Periodic Syndrome (CAPS), caused by mutations in the NLRP3 gene, leading to excessive interleukin-1β (IL-1β) activity. Pathophysiology Mutations in NLRP3 cause constant activation of inflammasomes, triggering uncontrolled IL-1β release. This leads to chronic systemic inflammation, affecting the skin, joints, eyes, central nervous system (CNS), and bones. Persistent inflammation results in progressive organ damage. Clinical Features Rash (urticaria-like, present at birth). Fever & systemic inflammation (persistent rather than episodic). Joint abnormalities (arthritis, overgrowth of bone structures). Neurological symptoms (chronic meningitis, headaches, hearing loss). Growth abnormalities (short stature due to bone involvement). Diagnosis Genetic testing for NLRP3 mutations. Inflammatory markers (elevated CRP, ESR, and serum amyloid A). MRI of the brain (detects chronic meningitis). Audiometric testing (monitors hearing loss progression). Treatment IL-1 inhibitors (Anakinra, Canakinumab) to block IL-1β signaling. NSAIDs & corticosteroids (for symptom control). Regular monitoring for organ damage and neurological complications. #Neonatal