周期性发热-阿弗它口炎—咽炎—淋巴结炎9例临床表型及基因特点分析

发布时间：2018-05-01 09:07

本文选题：PFAPA + 炎症因子　；参考：《重庆医科大学》2017年硕士论文

【摘要】：目的探讨周期热-阿弗他口炎-咽炎-淋巴结炎(periodic fever,aphthous stomatitis,pharyngitis and adenitis,PFAPA)患儿的临床特征、炎症细胞因子变化及基因突变特点。方法回顾性分析2015年6月至2016年12月于深圳市儿童医院诊断的9例PFAPA患儿的临床资料及基因突变特点,应用Milliplex HCYTOMAG-60K试剂盒检测患儿外周血血浆炎症因子水平,分析患儿发热期及发热间歇期炎症指标及血浆炎症因子水平情况。结果9例患儿中男孩6例,女孩3例,中位起病年龄1岁1月(3月~5岁),中位诊断年龄6岁(11月~12岁7月),中位发热时长4~5天(1~10天),发热间歇期1~8周。9例PFAPA患儿均有周期性发热及咽炎/扁桃体炎,5例有淋巴结炎,3例有口腔溃疡。发热期均伴白细胞、CRP、SAA增高,发热间歇期上述指标可恢复正常。血浆炎症因子检测显示发热期IL-6、G-CSF、IFN-γ水平高于发热间歇期及正常组水平,而IL-1β、IL-17、TNF-α水平无明显差异。免疫基因组外显子测序显示6例PFAPA患儿存在MEFV基因杂合突变(62.5%),其中4例为exon2 c.442GC杂合突变,1例同时有exon2 c.442GC和exon2c.329TC两个位点杂合突变,1例为exon2 c.605GA杂合突变。结论PFAPA临床特征包括周期性发热、咽炎、扁桃体炎、阿弗他口炎及口腔溃疡,当患儿表现为周期性发热伴上述临床症状时需警惕PFAPA,基因测序分析、外周血炎症指标及细胞因子检测有助于诊断此病。
[Abstract]:Objective to investigate the clinical characteristics, changes of inflammatory cytokines and gene mutation in children with periodic fever, aphortastomatitis, pharyngitis and adenitis, and lymphadenitis. Methods the clinical data and gene mutation characteristics of 9 children with PFAPA diagnosed in Shenzhen Children's Hospital from June 2015 to December 2016 were analyzed retrospectively. The plasma inflammatory factor levels in peripheral blood were detected by Milliplex HCYTOMAG-60K kit. The levels of inflammatory markers and plasma inflammatory factors in febrile and intermittent febrile children were analyzed. Results among the 9 children, 6 were boys and 3 were girls. Median onset age 1 year, January (March, 5 years), median age of diagnosis, age 6 (November, 12 years, July), median fever, 4 days, 5 days, 1 day, 10 days, fever interval, 18 weeks, 9 cases of PFAPA, periodic fever and pharyngitis / tonsillitis, 5 cases. Lymphadenitis was found in 3 cases with oral ulcer. In febrile stage, the leukocyte level of CRPSAA was increased, and the above indexes could return to normal in the interval of fever. The detection of plasma inflammatory factors showed that the level of IL-6 G-CSF- 纬 was higher in febrile interval and normal group, but the level of IL-1 尾 IL-17 TNF- 伪 had no significant difference. The sequencing of the exon of the immune genome showed that 6 children with PFAPA had MEFV gene heterozygous mutation 62.5%, of which 4 cases were exon2 c.442GC heterozygosity mutations and 1 case had both exon2 c.442GC and exon2c.329TC locus heterozygous mutations. 1 case was exon2 c.605GA heterozygous mutation. Conclusion the clinical features of PFAPA include periodic fever, pharyngitis, tonsillitis, aphtha stomatitis and oral ulcer. The detection of inflammatory markers and cytokines in peripheral blood is helpful in the diagnosis of this disease.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R725

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