儿童 1 型干扰素病:大型患者队列中的共性与多样性》(Commonalities and Diversities in A Large Patient Cohort)。

IF 3.6 2区 医学 Q2 RHEUMATOLOGY
Fatih Haslak, Huseyin Kilic, Sezgin Sahin, Busra Hotaman, Nur Memnune Cebi, Mehmet Yildiz, Amra Adrovic, Aybuke Gunalp, Elif Kilic Konte, Esma Aslan, Umit Gul, Nergis Akay, Yilmaz Zindar, Fitnat Ulug, Serhat Guler, Ayca Kiykim, Sezin Aydemir, Kenan Barut, Sema Saltik, Haluk C Cokugras, Ozgur Kasapcopur
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引用次数: 0

摘要

研究目的本研究旨在全面概述1型干扰素病患者的临床特征、实验室和筛查结果、治疗方案和预后。我们的次要目标是确定长期发病或死亡的预测因素:我们的研究对象包括经基因证实患有1型干扰素病、随访时间超过1年的儿童。数据通过病历回顾性获得:在40名符合研究条件的患者中,52.5%为女性,中位发病年龄为1.5岁(0.1-13.2岁)。他们的平均确诊年龄为(6.8 ± 4.6)岁。最常见的诊断是艾卡迪-古蒂耶尔综合征(n=15;37.5%)。中枢神经系统是最常受影响的系统(n=27;67.5%)。有 17 名患者(42.5%)服用了 Janus 激酶抑制剂。25名患者(62.5%)在随访期间至少出现一种永久性病症或死亡,因此被列入不良结局组。在单变量逻辑回归分析中,发病年龄较小、颅内钙化(ICC)、无淤斑和急性时相反应物(APRs)升高均具有显著性,但在多变量逻辑回归分析中,只有入院时 MRI 上的 ICC(aOR,19.69;95% C.I.:1.08-359.05,p=0.04)是不良预后的重要预测因素:结论:我们首次评估了1型干扰素病患者不良预后的预测因素,这些患者具有广泛的亚型。此外,我们的研究具有独特的患者特征,可以为这些极为罕见的病症提供有价值的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.

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.

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来源期刊
Journal of Rheumatology
Journal of Rheumatology 医学-风湿病学
CiteScore
6.50
自引率
5.10%
发文量
285
审稿时长
1 months
期刊介绍: The Journal of Rheumatology is a monthly international serial edited by Earl D. Silverman. The Journal features research articles on clinical subjects from scientists working in rheumatology and related fields, as well as proceedings of meetings as supplements to regular issues. Highlights of our 41 years serving Rheumatology include: groundbreaking and provocative editorials such as "Inverting the Pyramid," renowned Pediatric Rheumatology, proceedings of OMERACT and the Canadian Rheumatology Association, Cochrane Musculoskeletal Reviews, and supplements on emerging therapies.
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