幼年系统性红斑狼疮患者的概况,特别是单基因狼疮和狼疮肾炎:一项横断面研究。

IF 3.2 3区 医学 Q2 RHEUMATOLOGY
Rheumatology International Pub Date : 2024-12-01 Epub Date: 2024-08-24 DOI:10.1007/s00296-024-05696-0
Sagar Bhattad, Neha Singh, Jyothi Janardhanan, Harish Kumar, Syed Mohammed Naushad Ali, Karthik Arigela, Nischal Kundaragi, P Vidyashankar, Udhaya Kotecha, Chetan Ginigeri
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引用次数: 0

摘要

目的:研究印度南部一家三级医疗中心的幼年系统性红斑狼疮(jSLE)患者的临床、实验室概况和预后。对2017年2月至2023年12月期间在印度阿斯特CMI医院儿科免疫学和风湿病科就诊的所有jSLE患者的病历进行了回顾性审查。临床特征、治疗和结果均被记录并制成表格。研究共纳入了 70 名被诊断为 jSLE 的患者。男女比例为4.4:1。平均发病年龄为120.1 (+/- 56.8)个月,平均诊断延迟时间为11.7 (+/- 22.7)个月。随访时间的中位数为 13 个月(4-29 个月)。九名患者表现为早发性系统性红斑狼疮 (
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study.

Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study.

To study the clinical, laboratory profile and outcome of juvenile Systemic Lupus Erythematosus (jSLE) patients at a tertiary care centre in South India. A retrospective review of the medical records of all jSLE patients visiting the Pediatric Immunology and Rheumatology Unit, Aster CMI Hospital, India from February 2017 to December 2023 was performed. The clinical characteristics, treatment and outcomes were recorded and tabulated. Seventy patients diagnosed with jSLE were included in the study. The female-to-male ratio was 4.4:1. Mean age at onset and delay in diagnosis were 120.1 (+/- 56.8) and 11.7 (+/- 22.7) months respectively. The median follow-up period was 13 months (range 4, 29 months). Nine patients presented with early onset SLE (< 5 years). Most common manifestations were constitutional symptoms (n = 56), followed by haematologic (n = 55), and mucocutaneous(n = 50) involvement. Immunological workup showed SLE-specific antibody positivity in 38 patients, hypocomplementemia in 40 patients, and anti-phospholipid antibody positivity in 13 patients. Mortality was observed in five patients with LN while there was no mortality in the non-nephritis group (p 0.004). C1q deficiency was the most common cause of monogenic lupus seen in 5/9 patients; protein kinase C delta (PRKCD) defect and chronic granulomatous disease (CYBB mutation) were seen in one patient each. We describe a large cohort of jSLE from Southern India. Lupus nephritis was noted in 35.7% of our cohort and had a direct correlation with mortality. 10% of patients had monogenic lupus. Serious infections were more frequent in patients with monogenic lupus.

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来源期刊
Rheumatology International
Rheumatology International 医学-风湿病学
CiteScore
7.30
自引率
5.00%
发文量
191
审稿时长
16. months
期刊介绍: RHEUMATOLOGY INTERNATIONAL is an independent journal reflecting world-wide progress in the research, diagnosis and treatment of the various rheumatic diseases. It is designed to serve researchers and clinicians in the field of rheumatology. RHEUMATOLOGY INTERNATIONAL will cover all modern trends in clinical research as well as in the management of rheumatic diseases. Special emphasis will be given to public health issues related to rheumatic diseases, applying rheumatology research to clinical practice, epidemiology of rheumatic diseases, diagnostic tests for rheumatic diseases, patient reported outcomes (PROs) in rheumatology and evidence on education of rheumatology. Contributions to these topics will appear in the form of original publications, short communications, editorials, and reviews. "Letters to the editor" will be welcome as an enhancement to discussion. Basic science research, including in vitro or animal studies, is discouraged to submit, as we will only review studies on humans with an epidemological or clinical perspective. Case reports without a proper review of the literatura (Case-based Reviews) will not be published. Every effort will be made to ensure speed of publication while maintaining a high standard of contents and production. Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.
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