Clinical characteristics of early-onset paediatric systemic lupus erythematosus in a single centre in China

作者全名："Hou, Yipei; Wang, Li; Luo, Chong; Tang, Wenjing; Dai, Rongxin; An, Yunfei; Tang, Xuemei"

作者地址："[Hou, Yipei; Wang, Li; Luo, Chong; Tang, Wenjing; Dai, Rongxin; An, Yunfei; Tang, Xuemei] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders,Chongqing, Dept Rheumatol & Immunol,Childrens Hosp,Chongqing, Key Lab Child Dev & Disorders,Minist Educ, Chongqing, Peoples R China; [Tang, Xuemei] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders,Chongqing, Dept Rheumatol & Immunol,Childrens Hosp,Chongqing, Key Lab Child Dev & Disorders,Minist Educ, 136, 2nd Zhongshan Rd, Chongqing 400014, Peoples R China"

通信作者："Tang, XM (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders,Chongqing, Dept Rheumatol & Immunol,Childrens Hosp,Chongqing, Key Lab Child Dev & Disorders,Minist Educ, 136, 2nd Zhongshan Rd, Chongqing 400014, Peoples R China."

来源：RHEUMATOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000945838700001

JCR分区：Q1

影响因子：4.7

年份：2023

卷号：　

期号：　

开始页：　

结束页：　

文献类型：Article; Early Access

关键词：early-onset; children; SLE; genetic

摘要："Objectives We sought to investigate the sex distribution, clinical presentations, disease outcomes and genetic background of early-onset paediatric SLE (eo-pSLE) in a single centre in China to help enable early diagnosis and timely treatment. Methods The clinical data of children aged less than 5 years old with SLE (n = 19) from January 2012 to December 2021 were reviewed and analysed. We performed DNA sequencing in 11 out of 19 patients to survey the genetic aetiologies. Results Our study included 6 males and 13 females. The mean age at onset was 3.73 years. The median diagnostic delay was 9 months and was longer in male patients (P = 0.02). Four patients had an SLE-relevant family history. The most common clinical manifestations at diagnosis were fever, rash and hepatosplenomegaly. ANA positivity and low C3 were identified in all children. The renal (94.74%), mucocutaneous (94.74%), haematological (89.47%), respiratory (89.47%), digestive (84.21%), cardiovascular (57.89%) and neuropsychiatric (52.63%) systems were involved to varying degrees. We identified 13 SLE-associated gene mutations in 9 out of 11 patients: TREX1, PIK3CD, LRBA, KRAS, STAT4, C3, ITGAM, CYBB, TLR5, RIPK1, BACH2, CFHR5 and SYK. One male patient showed a 47, XXY chromosomal abnormality. Conclusion Early-onset (<5 years) pSLE is characterized by an insidious onset, typical immunological patterns, and the involvement of multiple organs. Immunological screening and genetic testing should be performed as soon as feasible in patients with an early onset of multisystemic autoimmune diseases to confirm the diagnosis."

基金机构：National Key Research and Development Program of China [2021YFC2702005]

基金资助正文：This work was supported by National Key Research and Development Program of China (2021YFC2702005).