特應(yīng)性皮炎掌紋癥與絲聚蛋白基因突變研究
發(fā)布時(shí)間：2018-08-18 16:09
【摘要】：目的:(1)分析0-18歲中國(guó)特應(yīng)性皮炎(Atopic Dermatitis,AD)兒童臨床特點(diǎn),明確中國(guó)AD患兒的特征性表現(xiàn);(2)研究伴有掌紋癥的AD患兒絲聚蛋白(Filaggrin,FLG)基因突變情況,探討AD患兒臨床表型與FLG基因突變位點(diǎn)的關(guān)系。方法:(1)病例收集:門診收集0-18歲AD患者,對(duì)其進(jìn)行一般情況及臨床資料登記并總結(jié);(2)標(biāo)本采集:留取伴有掌紋癥的AD患兒及無(wú)AD、魚(yú)鱗病和其他特應(yīng)性疾病個(gè)人及家族史健康患兒的全血標(biāo)本,提取血基因組DNA并行絲聚蛋白基因高頻突變位點(diǎn)的篩查;(3)統(tǒng)計(jì)學(xué)分析:使用SPSS 21.0軟件對(duì)研究結(jié)果進(jìn)行統(tǒng)計(jì)學(xué)分析,計(jì)量資料使用均數(shù)±標(biāo)準(zhǔn)差(mean±SD)的形式表示,兩組間均數(shù)比較采用獨(dú)立樣本t檢驗(yàn),分類資料用頻數(shù)和百分?jǐn)?shù)進(jìn)行描述,采用卡方檢驗(yàn)進(jìn)行分析。結(jié)果:(1)本研究共收集0-18歲AD患兒1214例,其中男性患兒54.5%,女性患兒45.5%;平均年齡為40.31±40.36月,年齡中位數(shù)為27月;發(fā)病年齡平均為8.25±18.58月,發(fā)病年齡中位數(shù)為2月,92.1%患者屬早年發(fā)病(2歲),48.6%存在個(gè)人或家族特應(yīng)性疾病史;(2)最常伴發(fā)癥狀為干皮癥(82.5%),其次為面部皮炎(8.8%)、掌紋癥(23.7%)、合并食物過(guò)敏(19.6%)、非特異性手足皮炎(17.1%)、魚(yú)鱗病(13%)。(3)SCORAD總分平均為46.49±16.62,輕度AD7.3%,中度AD53.0%,重度AD39.7%;伴發(fā)掌紋癥的288例患兒SCORAD評(píng)分平均為45.61±15.45,7.9%為輕度,65.9%為中度,26.2%為重度。(4)51例伴發(fā)掌紋癥的AD患兒有45.1%檢測(cè)到FLG基因高頻突變位點(diǎn)突變,其中攜帶3321del A突變AD患兒27.5%,K4022X突變17.6%,2例患兒為純合突變,其余均為雜合突變。健康對(duì)照組中1例攜帶雜合型K4022X突變;伴有掌紋癥的AD患兒FLG基因突變與伴發(fā)食物過(guò)敏、魚(yú)鱗病、非特異性手足皮炎相關(guān);FLG基因突變與實(shí)驗(yàn)組年齡、性別、疾病嚴(yán)重程度均無(wú)明顯相關(guān)。結(jié)論:(1)我科門診就診的AD患兒病情以中重度為主。(2)AD患兒伴發(fā)癥狀以干皮癥和面部皮炎最為常見(jiàn),其次為掌紋癥。(3)伴有掌紋癥的AD患兒以中重度多見(jiàn),推測(cè)掌紋癥可能是一種與AD嚴(yán)重程度密切相關(guān)的臨床表型,掌紋癥是一個(gè)需要早期加強(qiáng)管理的AD的臨床特征。(4)伴有掌紋癥的AD患者發(fā)病與FLG高頻基因(3321del A和K4022X)突變強(qiáng)相關(guān)。(5)伴有掌紋癥的AD患者FLG基因高頻突變(3321del A和K4022X)與魚(yú)鱗病、食物過(guò)敏和非特異性手足皮炎臨床表型相關(guān)。(6)伴有掌紋癥的AD患者攜帶FLG基因高頻突變(3321del A和K4022X)的個(gè)體發(fā)病年齡較小,提示掌紋癥可能是AD早年發(fā)病的一個(gè)危險(xiǎn)因素。
[Abstract]:Objective: (1) to analyze the clinical characteristics of Chinese children with Atopic Dermatodermatitis (AD) aged 0-18, and to identify the characteristic manifestations of AD in China; (2) to study the mutation of Filaggrin FLG gene in AD children with palmprint. To investigate the relationship between clinical phenotype and FLG gene mutation in children with AD. Methods: (1) case collection: the patients aged 0-18 years were collected from outpatient clinic. The general information and clinical data were recorded and summarized. (2) specimen collection: the whole blood samples of AD children with palmprint disease and those without AD-, ichthyosis and other atopic diseases and healthy children with family history were collected. Extraction of blood genomic DNA and screening of high frequency mutation sites of silk polyprotein gene; (3) Statistical analysis: the results of the study were statistically analyzed by using SPSS 21.0 software, and the measurement data were expressed in the form of mean 鹵standard deviation (mean 鹵SD). Independent sample t test was used to compare the mean of the two groups, frequency and percentage were used to describe the classification data, and chi-square test was used to analyze the data. Results: (1) A total of 1214 children aged 0-18 years with AD were enrolled in this study. The mean age was 40.31 鹵40.36 months, the median age was 27 months, the mean age of onset was 8.25 鹵18.58 months, the mean age was 40.31 鹵40.36 months, the mean age of onset was 8.25 鹵18.58 months, the mean age was 40.31 鹵40.36 months. The median age of onset was 92. 1% in 2 months. 48.6% of the patients had a history of personal or familial atopic diseases. (2) the most common symptoms were dry dermatitis (82.5%), facial dermatitis (8. 8%), palmprint (23. 7%), food allergy (19. 6%), and nonspecific hand disease (19. 6%). The average total SCORAD score of foot dermatitis (17.1%), ichthyosis (13%). (3) was 46.49 鹵16.62, mild AD7.3, moderate AD53.0 and severe AD39.7.The average SCORAD score of 288 children with palmprint was 45.61 鹵15.45.9%, mild 65.9% was moderate and 26.2% was severe. (4) FLG gene was detected in 45.1% of 51 AD patients with palmprint. High frequency mutation site mutation, There were 2 cases of homozygous mutation with 3321del A mutation and 17.6X mutation with K4022X mutation, and all the others were heterozygous mutations. In the healthy control group, a case with heterozygous K4022X mutation, FLG gene mutation associated with food allergy, ichthyosis, nonspecific hand and foot dermatitis and age and sex of the experimental group were found in AD patients with palmprint disease. No significant correlation was found in the severity of the disease. Conclusion: (1) the major symptoms of AD patients in our outpatient department are moderate and severe. (2) dry dermatosis and facial dermatitis are the most common symptoms in AD patients, followed by palmprint. (3) moderate and severe symptoms are common in AD patients with palmprint. It is speculated that palmprint may be a clinical phenotype closely related to the severity of AD. Palmprint is a clinical feature of AD which needs to be managed early. (4) the incidence of AD with palmprint is strongly related to the mutation of FLG high frequency gene (3321del A and K4022X). (5) the high frequency mutation of FLG gene (3321del A and K4022X) in AD patients with palmprint is associated with ichthyosis. (6) individuals with high frequency mutations of FLG gene (3321del A and K4022X) in AD patients with palmprint disease had a younger onset age, suggesting that palmprint may be a risk factor for the early onset of AD.
【學(xué)位授予單位】：首都醫(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)】：R758.2
本文編號(hào)：2189988
[Abstract]:Objective: (1) to analyze the clinical characteristics of Chinese children with Atopic Dermatodermatitis (AD) aged 0-18, and to identify the characteristic manifestations of AD in China; (2) to study the mutation of Filaggrin FLG gene in AD children with palmprint. To investigate the relationship between clinical phenotype and FLG gene mutation in children with AD. Methods: (1) case collection: the patients aged 0-18 years were collected from outpatient clinic. The general information and clinical data were recorded and summarized. (2) specimen collection: the whole blood samples of AD children with palmprint disease and those without AD-, ichthyosis and other atopic diseases and healthy children with family history were collected. Extraction of blood genomic DNA and screening of high frequency mutation sites of silk polyprotein gene; (3) Statistical analysis: the results of the study were statistically analyzed by using SPSS 21.0 software, and the measurement data were expressed in the form of mean 鹵standard deviation (mean 鹵SD). Independent sample t test was used to compare the mean of the two groups, frequency and percentage were used to describe the classification data, and chi-square test was used to analyze the data. Results: (1) A total of 1214 children aged 0-18 years with AD were enrolled in this study. The mean age was 40.31 鹵40.36 months, the median age was 27 months, the mean age of onset was 8.25 鹵18.58 months, the mean age was 40.31 鹵40.36 months, the mean age of onset was 8.25 鹵18.58 months, the mean age was 40.31 鹵40.36 months. The median age of onset was 92. 1% in 2 months. 48.6% of the patients had a history of personal or familial atopic diseases. (2) the most common symptoms were dry dermatitis (82.5%), facial dermatitis (8. 8%), palmprint (23. 7%), food allergy (19. 6%), and nonspecific hand disease (19. 6%). The average total SCORAD score of foot dermatitis (17.1%), ichthyosis (13%). (3) was 46.49 鹵16.62, mild AD7.3, moderate AD53.0 and severe AD39.7.The average SCORAD score of 288 children with palmprint was 45.61 鹵15.45.9%, mild 65.9% was moderate and 26.2% was severe. (4) FLG gene was detected in 45.1% of 51 AD patients with palmprint. High frequency mutation site mutation, There were 2 cases of homozygous mutation with 3321del A mutation and 17.6X mutation with K4022X mutation, and all the others were heterozygous mutations. In the healthy control group, a case with heterozygous K4022X mutation, FLG gene mutation associated with food allergy, ichthyosis, nonspecific hand and foot dermatitis and age and sex of the experimental group were found in AD patients with palmprint disease. No significant correlation was found in the severity of the disease. Conclusion: (1) the major symptoms of AD patients in our outpatient department are moderate and severe. (2) dry dermatosis and facial dermatitis are the most common symptoms in AD patients, followed by palmprint. (3) moderate and severe symptoms are common in AD patients with palmprint. It is speculated that palmprint may be a clinical phenotype closely related to the severity of AD. Palmprint is a clinical feature of AD which needs to be managed early. (4) the incidence of AD with palmprint is strongly related to the mutation of FLG high frequency gene (3321del A and K4022X). (5) the high frequency mutation of FLG gene (3321del A and K4022X) in AD patients with palmprint is associated with ichthyosis. (6) individuals with high frequency mutations of FLG gene (3321del A and K4022X) in AD patients with palmprint disease had a younger onset age, suggesting that palmprint may be a risk factor for the early onset of AD.
【學(xué)位授予單位】：首都醫(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)】：R758.2
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