特应性皮炎掌纹症与丝聚蛋白基因突变研究
发布时间：2018-08-18 16:09
【摘要】：目的:(1)分析0-18岁中国特应性皮炎(Atopic Dermatitis,AD)儿童临床特点,明确中国AD患儿的特征性表现;(2)研究伴有掌纹症的AD患儿丝聚蛋白(Filaggrin,FLG)基因突变情况,探讨AD患儿临床表型与FLG基因突变位点的关系。方法:(1)病例收集:门诊收集0-18岁AD患者,对其进行一般情况及临床资料登记并总结;(2)标本采集:留取伴有掌纹症的AD患儿及无AD、鱼鳞病和其他特应性疾病个人及家族史健康患儿的全血标本,提取血基因组DNA并行丝聚蛋白基因高频突变位点的筛查;(3)统计学分析:使用SPSS 21.0软件对研究结果进行统计学分析,计量资料使用均数±标准差(mean±SD)的形式表示,两组间均数比较采用独立样本t检验,分类资料用频数和百分数进行描述,采用卡方检验进行分析。结果:(1)本研究共收集0-18岁AD患儿1214例,其中男性患儿54.5%,女性患儿45.5%;平均年龄为40.31±40.36月,年龄中位数为27月;发病年龄平均为8.25±18.58月,发病年龄中位数为2月,92.1%患者属早年发病(2岁),48.6%存在个人或家族特应性疾病史;(2)最常伴发症状为干皮症(82.5%),其次为面部皮炎(8.8%)、掌纹症(23.7%)、合并食物过敏(19.6%)、非特异性手足皮炎(17.1%)、鱼鳞病(13%)。(3)SCORAD总分平均为46.49±16.62,轻度AD7.3%,中度AD53.0%,重度AD39.7%;伴发掌纹症的288例患儿SCORAD评分平均为45.61±15.45,7.9%为轻度,65.9%为中度,26.2%为重度。(4)51例伴发掌纹症的AD患儿有45.1%检测到FLG基因高频突变位点突变,其中携带3321del A突变AD患儿27.5%,K4022X突变17.6%,2例患儿为纯合突变,其余均为杂合突变。健康对照组中1例携带杂合型K4022X突变;伴有掌纹症的AD患儿FLG基因突变与伴发食物过敏、鱼鳞病、非特异性手足皮炎相关;FLG基因突变与实验组年龄、性别、疾病严重程度均无明显相关。结论:(1)我科门诊就诊的AD患儿病情以中重度为主。(2)AD患儿伴发症状以干皮症和面部皮炎最为常见,其次为掌纹症。(3)伴有掌纹症的AD患儿以中重度多见,推测掌纹症可能是一种与AD严重程度密切相关的临床表型,掌纹症是一个需要早期加强管理的AD的临床特征。(4)伴有掌纹症的AD患者发病与FLG高频基因(3321del A和K4022X)突变强相关。(5)伴有掌纹症的AD患者FLG基因高频突变(3321del A和K4022X)与鱼鳞病、食物过敏和非特异性手足皮炎临床表型相关。(6)伴有掌纹症的AD患者携带FLG基因高频突变(3321del A和K4022X)的个体发病年龄较小,提示掌纹症可能是AD早年发病的一个危险因素。
[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 卤standard deviation (mean 卤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 卤40.36 months, the median age was 27 months, the mean age of onset was 8.25 卤18.58 months, the mean age was 40.31 卤40.36 months, the mean age of onset was 8.25 卤18.58 months, the mean age was 40.31 卤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 卤16.62, mild AD7.3, moderate AD53.0 and severe AD39.7.The average SCORAD score of 288 children with palmprint was 45.61 卤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.
【学位授予单位】：首都医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R758.2
本文编号：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 卤standard deviation (mean 卤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 卤40.36 months, the median age was 27 months, the mean age of onset was 8.25 卤18.58 months, the mean age was 40.31 卤40.36 months, the mean age of onset was 8.25 卤18.58 months, the mean age was 40.31 卤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 卤16.62, mild AD7.3, moderate AD53.0 and severe AD39.7.The average SCORAD score of 288 children with palmprint was 45.61 卤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.
【学位授予单位】：首都医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R758.2
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