Children With Type 1 Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
J Rheumatol
; 2024 Sep 01.
Article
in En
| MEDLINE
| ID: mdl-39089832
ABSTRACT
OBJECTIVE:
This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type I interferonopathy. Our secondary goal was to identify the predictors of long-term morbidity or mortality.METHODS:
We included children with genetically confirmed type I interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records.RESULTS:
Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (range 0.1-13.2 yrs). They were diagnosed at an average age of 6.8 (SD 4.6) years. Aicardi-Goutières syndrome was the most common diagnosis (n = 15, 37.5%). The central nervous system was the most frequently affected system (n = 27, 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least 1 permanent morbidity or died during follow-up; thus, they were included in the poor outcome group. Although younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute-phase reactants were significant in univariate logistic regression analysis, only ICC on magnetic resonance imaging at admission (adjusted odds ratio 19.69, 95% CI 1.08-359.05, P = 0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis.CONCLUSION:
For the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes. Further, our study's unique patient characteristics can provide valuable insights into these extremely rare conditions.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
J Rheumatol
/
J. rheumatol
/
Journal of rheumatology
Year:
2024
Document type:
Article
Country of publication:
Canadá