在儿科临床实践中,不明原因发热(FUO)很难诊断。随着疾病谱的逐渐变化,遗传因素越来越受到重视。有限的研究表明FUO与染色体异常之间存在关联。在这项研究中,我们在中国儿科队列中调查了FUO染色体异常患者的临床和遗传特征.
在5.5%(8/145)的FUO患者中检测到染色体异常。6例炎性热患者出现咽炎/杏仁炎(4/6),口腔阿弗他溃疡(2/6),消化症状(3/6),发烧期间的发育延迟(4/6)和C反应蛋白水平升高(6/6)。这些患者通常被认为患有全身性炎症性疾病,如Behcet病或系统性幼年特发性关节炎。三体8,7q11.23dup,3p26.3-p26.1del/17q12dup,22q11.21del,在炎症性发热患者中发现6q23.3-q24.1del。TNFAIP3基因包括在6q23.3-q24.1缺失片段中。两名中枢发热患者的特征是面部异常,发育迟缓,癫痫发作,对退烧药没有反应,被鉴定为携带从头18q22.3-q23del。通过文献综述,另外发现了19例FUO和染色体异常患者.据报道,三体8、6q23.2-q24.3del和18q22.3-q23del表现为发烧,与我们的研究结果相似。
我们强调了检测FUO患者染色体异常的重要作用,尤其是有全身炎症表现或发育迟缓的患者。鉴定染色体异常可能会改变FUO患者的诊断和管理。
Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies have shown an association between FUO and chromosomal abnormalities. In this study, we investigated the clinical and genetic characteristics of patients with FUO presenting with chromosomal abnormalities in a Chinese pediatric cohort.
Chromosomal abnormalities were detected in 5.5% (8/145) of the patients with FUO. Six patients with inflammatory fever presented with pharyngitis/amygdalitis (4/6), oral aphthous ulcer (2/6), digestive symptoms (3/6), developmental delay (4/6) and elevated C-reactive protein levels (6/6) during fever. These patients were often considered to have systemic inflammatory diseases, such as Behcet\'s disease or systemic juvenile idiopathic arthritis. Trisomy 8, 7q11.23 dup, 3p26.3-p26.1 del/17q12 dup, 22q11.21 del, and 6q23.3-q24.1 del were identified in patients with inflammatory fever. The TNFAIP3 gene was included in the 6q23.3-q24.1 deletion fragment. Two patients with central fever were characterized by facial anomalies, developmental delay, seizures and no response to antipyretic drugs and were identified as carrying the de novo 18q22.3-q23 del. By performing a literature
review, an additional 19 patients who had FUO and chromosomal abnormalities were identified. Trisomy 8, 6q23.2-q24.3 del and 18q22.3-q23 del were reported to present as fever, similar to the findings of our study.
We emphasized the important role of detecting chromosomal abnormalities in patients with FUO, especially in patients with systemic inflammatory manifestations or developmental delay. Identifying chromosomal abnormalities may change the diagnosis and management of patients with FUO.