目的探讨MEFV基因突变与过敏性紫癜(HSP)的相关性。方法计算机检索Pub Med、Web of Science、Medline、Cochrane Library、中国期刊全文数据库(CNKI)、万方数据库,检索从建库至2015年12月31日公开发表的关于M EFV基因突变与HSP相关性的...目的探讨MEFV基因突变与过敏性紫癜(HSP)的相关性。方法计算机检索Pub Med、Web of Science、Medline、Cochrane Library、中国期刊全文数据库(CNKI)、万方数据库,检索从建库至2015年12月31日公开发表的关于M EFV基因突变与HSP相关性的文献,使用Rev Man 5.0软件进行Meta分析。结果最终纳入6篇英文文献,累计总病例数433例,其中MEFV基因突变136例,Meta分析结果显示合并的MEFV基因突变率为0.3(95%CI:0.23,0.37);3个亚组(关节炎组、消化道症状组、肾脏损害组)每组中MEFV基因突变与非突变比较均P>0.05,提示MEFV基因突变与临床症状无显著性差异。结论 MEFV基因突变可能是儿童HSP遗传易感因素,但在临床表现方面MEFV基因突变与非突变无明显的区别。展开更多
Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different genetic mutations. Frequency of clinical manifestation differs according to age group, geographic r...Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different genetic mutations. Frequency of clinical manifestation differs according to age group, geographic region and ethnic population. Objectives: To study the clinical manifestation of FMF in relation to genotype (M680I, M694V, M694I and V726A). Result: The main presentation of studied group was abdominal pain 65.9% (203), followed by fever 60.4% (186) patients. (Mutation M694V) was the commonest 47.6% (297), followed by (Mutation V726A) in 32.8% (169%), then (Mutation M6802) in 23.4% (121) lastly (Mutation M6941) was in 22.1% (114) patients. Fever was highly associated with mutation (V729A) and it was statistically significant (*p value 0.047). Conclusion: Abdominal pain and fever were the most common manifestation of FMF patients. (Mutation M694V), (Mutation V726A) were the most detected mutation. Third age group;fever was associated with genetic mutation (V726A), abdominal pain with (M6941).展开更多
Objective: The aim of our study was to evaluate the clinical features, to define the frequency of mutation type, to assess genotype-phenotype correlation and the response to colchicine in childhood-onset Familial Medi...Objective: The aim of our study was to evaluate the clinical features, to define the frequency of mutation type, to assess genotype-phenotype correlation and the response to colchicine in childhood-onset Familial Mediterranean fever (FMF) in Lebanon. Methods: The characteristics of 550 children, presenting with FMF symptoms between January 2003 and January 2013 and having a positive Mediterranean fever gene (MEFV gene) mutation, were prospectively investigated. The clinical and genetic characteristics as well as the response to colchicine and its side effects were studied in 321 FMF children. The mutations were correlated with clinical presentation and disease severity. Results: Out of the 321 patients (183 males and 138 females), abdominal pain was the most common presenting feature documented in 84.7%. Mutational analysis detected simple heterozygotes, compound heterozygotes and homozygotes in 56.4%, 30.9% and 11.2% patients respectively. The most frequent mutation was M694V (37.2%), followed by E148Q mutation (27.4%). 71% patients received colchicine therapy;only 33.3% of them showed complete response. Genotype-phenotype correlation showed that M694V followed by E148Q was associated with moderate to severe disease form (71.6% and 62.7% respectively, P = 0.005). There was no association between mutation type and colchicine response. Conclusion: The most important features were the predominance of the M694V and E148Q. The M694V subgroup, followed by E148Q subgroup had a high disease severity score. Our data indicate an enhanced expression of the disease with E148Q mutation.展开更多
Introduction:Plasminogen(PLG)deficiency is an ultrarare disease.The reported manifestations in literature were linked to pseudomembrane formation and mucosal surfaces inflammation.Recently,PLG,its activa-tors and its ...Introduction:Plasminogen(PLG)deficiency is an ultrarare disease.The reported manifestations in literature were linked to pseudomembrane formation and mucosal surfaces inflammation.Recently,PLG,its activa-tors and its receptors have gained more attention in inflammation regulatory processes,including the release of proinflammatory signaling molecules,and thus its role is believed to have clinical implications beyond what has been known.Case Report:We present a child with recurrent fever who,although managed initially as familial Mediterranean fever,later on,developed a constellation of findings that were not explained by a classified autoinflammatory disease.Genetic testing revealed a novel homozygous PLG mutation(PLG:c.466G>A:p.D156N)and a likely benign heterozygous MEFV gene variant.We propose that the PLG mutation is responsible for the clinical manifestations,which may or may not be exacerbated by the coexistence of the MEFV variant.A relationship between the PLG pathway,inflammation,and FMF severity has been addressed recently in several studies.Conclusion:This report highlights the recently recognized role of the PLG pathway in inflammatory diseases and describes a potentially new presenta-tion of PLG pathogenesis.Further studies are needed to confirm this finding and allow for a more definitive conclusion.展开更多
文摘目的探讨MEFV基因突变与过敏性紫癜(HSP)的相关性。方法计算机检索Pub Med、Web of Science、Medline、Cochrane Library、中国期刊全文数据库(CNKI)、万方数据库,检索从建库至2015年12月31日公开发表的关于M EFV基因突变与HSP相关性的文献,使用Rev Man 5.0软件进行Meta分析。结果最终纳入6篇英文文献,累计总病例数433例,其中MEFV基因突变136例,Meta分析结果显示合并的MEFV基因突变率为0.3(95%CI:0.23,0.37);3个亚组(关节炎组、消化道症状组、肾脏损害组)每组中MEFV基因突变与非突变比较均P>0.05,提示MEFV基因突变与临床症状无显著性差异。结论 MEFV基因突变可能是儿童HSP遗传易感因素,但在临床表现方面MEFV基因突变与非突变无明显的区别。
文摘Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different genetic mutations. Frequency of clinical manifestation differs according to age group, geographic region and ethnic population. Objectives: To study the clinical manifestation of FMF in relation to genotype (M680I, M694V, M694I and V726A). Result: The main presentation of studied group was abdominal pain 65.9% (203), followed by fever 60.4% (186) patients. (Mutation M694V) was the commonest 47.6% (297), followed by (Mutation V726A) in 32.8% (169%), then (Mutation M6802) in 23.4% (121) lastly (Mutation M6941) was in 22.1% (114) patients. Fever was highly associated with mutation (V729A) and it was statistically significant (*p value 0.047). Conclusion: Abdominal pain and fever were the most common manifestation of FMF patients. (Mutation M694V), (Mutation V726A) were the most detected mutation. Third age group;fever was associated with genetic mutation (V726A), abdominal pain with (M6941).
文摘Objective: The aim of our study was to evaluate the clinical features, to define the frequency of mutation type, to assess genotype-phenotype correlation and the response to colchicine in childhood-onset Familial Mediterranean fever (FMF) in Lebanon. Methods: The characteristics of 550 children, presenting with FMF symptoms between January 2003 and January 2013 and having a positive Mediterranean fever gene (MEFV gene) mutation, were prospectively investigated. The clinical and genetic characteristics as well as the response to colchicine and its side effects were studied in 321 FMF children. The mutations were correlated with clinical presentation and disease severity. Results: Out of the 321 patients (183 males and 138 females), abdominal pain was the most common presenting feature documented in 84.7%. Mutational analysis detected simple heterozygotes, compound heterozygotes and homozygotes in 56.4%, 30.9% and 11.2% patients respectively. The most frequent mutation was M694V (37.2%), followed by E148Q mutation (27.4%). 71% patients received colchicine therapy;only 33.3% of them showed complete response. Genotype-phenotype correlation showed that M694V followed by E148Q was associated with moderate to severe disease form (71.6% and 62.7% respectively, P = 0.005). There was no association between mutation type and colchicine response. Conclusion: The most important features were the predominance of the M694V and E148Q. The M694V subgroup, followed by E148Q subgroup had a high disease severity score. Our data indicate an enhanced expression of the disease with E148Q mutation.
文摘Introduction:Plasminogen(PLG)deficiency is an ultrarare disease.The reported manifestations in literature were linked to pseudomembrane formation and mucosal surfaces inflammation.Recently,PLG,its activa-tors and its receptors have gained more attention in inflammation regulatory processes,including the release of proinflammatory signaling molecules,and thus its role is believed to have clinical implications beyond what has been known.Case Report:We present a child with recurrent fever who,although managed initially as familial Mediterranean fever,later on,developed a constellation of findings that were not explained by a classified autoinflammatory disease.Genetic testing revealed a novel homozygous PLG mutation(PLG:c.466G>A:p.D156N)and a likely benign heterozygous MEFV gene variant.We propose that the PLG mutation is responsible for the clinical manifestations,which may or may not be exacerbated by the coexistence of the MEFV variant.A relationship between the PLG pathway,inflammation,and FMF severity has been addressed recently in several studies.Conclusion:This report highlights the recently recognized role of the PLG pathway in inflammatory diseases and describes a potentially new presenta-tion of PLG pathogenesis.Further studies are needed to confirm this finding and allow for a more definitive conclusion.
