本文選題：PFAPA + 炎癥因子��； 參考：《重慶醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的探討周期熱-阿弗他口炎-咽炎-淋巴結(jié)炎(periodic fever,aphthous stomatitis,pharyngitis and adenitis,PFAPA)患兒的臨床特征、炎癥細(xì)胞因子變化及基因突變特點(diǎn)。方法回顧性分析2015年6月至2016年12月于深圳市兒童醫(yī)院診斷的9例PFAPA患兒的臨床資料及基因突變特點(diǎn),應(yīng)用Milliplex HCYTOMAG-60K試劑盒檢測(cè)患兒外周血血漿炎癥因子水平,分析患兒發(fā)熱期及發(fā)熱間歇期炎癥指標(biāo)及血漿炎癥因子水平情況。結(jié)果9例患兒中男孩6例,女孩3例,中位起病年齡1歲1月(3月~5歲),中位診斷年齡6歲(11月~12歲7月),中位發(fā)熱時(shí)長(zhǎng)4~5天(1~10天),發(fā)熱間歇期1~8周。9例PFAPA患兒均有周期性發(fā)熱及咽炎/扁桃體炎,5例有淋巴結(jié)炎,3例有口腔潰瘍。發(fā)熱期均伴白細(xì)胞、CRP、SAA增高,發(fā)熱間歇期上述指標(biāo)可恢復(fù)正常。血漿炎癥因子檢測(cè)顯示發(fā)熱期IL-6、G-CSF、IFN-γ水平高于發(fā)熱間歇期及正常組水平,而IL-1β、IL-17、TNF-α水平無(wú)明顯差異。免疫基因組外顯子測(cè)序顯示6例PFAPA患兒存在MEFV基因雜合突變(62.5%),其中4例為exon2 c.442GC雜合突變,1例同時(shí)有exon2 c.442GC和exon2c.329TC兩個(gè)位點(diǎn)雜合突變,1例為exon2 c.605GA雜合突變。結(jié)論P(yáng)FAPA臨床特征包括周期性發(fā)熱、咽炎、扁桃體炎、阿弗他口炎及口腔潰瘍,當(dāng)患兒表現(xiàn)為周期性發(fā)熱伴上述臨床癥狀時(shí)需警惕PFAPA,基因測(cè)序分析、外周血炎癥指標(biāo)及細(xì)胞因子檢測(cè)有助于診斷此病。
[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- 緯 was higher in febrile interval and normal group, but the level of IL-1 尾 IL-17 TNF- 偽 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.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R725

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