Progress on diagnosis and treatment of neonatal-onset multisystem inflammatory disease
10.3760/cma.j.issn.1673-4408.2023.10.008
- VernacularTitle:新生儿发病的多系统炎症性疾病的诊疗进展
- Author:
Yao AN
1
;
Yi WANG
;
Yujuan ZHAO
Author Information
1. 西安市儿童医院新生儿科 710003
- Keywords:
Infant, neonate;
Multisystem inflammatory disease;
Autoinflammatory disease;
NLRP3 gene mutations
- From:
International Journal of Pediatrics
2023;50(10):684-688
- CountryChina
- Language:Chinese
-
Abstract:
Neonatal onset multisystem inflammatory disease(NOMID), also known as chronic infantile neurological cutaneous and articular syndrome(CINCA), originates from perinatal period and mainly manifests urticaria, joint lesions, and central nervous system lesions.It is an autoinflammatory disease associated with mutations of NLRP3 located on chromosome 1q44.The early atypical clinical symptoms are prone to misdiagnosis.NOMID/CINCA should be differentiated from infectious diseases, familial cold autoinflammatory syndrome, Muckle-Wells syndrome, systemic juvenile idiopathic arthritis, mevalonate-kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, and other diseases.NOMID/CINCA is mainly diagnosed based on clinical symptoms, while genetic testing provides an essential supplementary for patients with atypical clinical manifestations.IL-1 targeted therapies including anakinra, rilonacept, and canakinumab, have been proven with sustained efficacy in treating NOMID/CINCA.This article reviews the progress on diagnosis and treatment of NOMID/CINCA.
