摘要
目的观察自身炎症性疾病的特征,评价国际自身炎症性疾病临床诊断标准在患者中的适用性。方法对2011年4月至2015年12月北京大学第一医院诊断自身炎症性疾病患者资料进行回顾性临床分析。结果共50例患者纳入研究,其中儿童起病18例,成人起病32例。发病中位年龄25.5岁(1~74岁)。35例(70%)为周期性发热;15例(30%)为持续性发热。发病时伴炎症指标升高,间期下降。所有患者均存在1种或以上炎症基因突变。MEFV基因杂合突变多见,最常见为E148Q位点(23/46例,50%)。其中仅5例(10.8%)符合家族性地中海热成人诊断标准。共7例患者明确诊断为单基因遗传性自身炎症性疾病。结论被研究患者缺乏特征性的临床表现及基因突变位点,仅少数患者可确诊为单基因遗传性自身炎症性疾病。目前国际上的自身炎症性疾病诊断标准不适用于研究患者。
Objective This study is aimed to evaluate the features in patients with autoinflammatory diseases and to assess the applicability of the international clinical diagnostic criteria for autoinflammatory diseases in these patients.Methods We retrospectively reviewed clinical data patients with autoinflammatory diseases in Peking University First Hospital within 5 year.Results Totally 50 patients were included.Eighteen patients experienced their first attack before 18 years of age,and 32 patients were with adult onset.The median age at onset was 25.5 years(range 1-74);35(70%)cases experienced recurrent episodes of fever;15(30%)cases had continuous fever.Inflammatory markers were elevated in most patients during fever attack,and reduced in period with no symptoms.All of patients had one or more sequence variants(SVs).MEFV gene mutations were the most common and all SVs were heterozygous.The most frequent genotype was E148 Q(23 patients 50%).Only 5 MEFV SVs cases(10.8%)were up to the familial Mediterranean fever(FMF)Tel Hashomer clinical criteria.Totlly 7 patients were diagnosed with single-gene hereditary autoinflammatory disease.Conclusion Most patients in the study didn’t show typical clinical features or typical gene mutations.The international diagnostic criteria of autoinflammatory diseases is not applicable to the patients in this study.
作者
钱建丹
李俊
姚甜甜
王贵强
QIAN Jian-dan;LI Jun;YAO Tian-tian;WANG Gui-qiang(Department of Infectious Diseases and the Center for Liver Diseases,Peking University First Hospital,Beijing 100034,China)
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2019年第6期547-550,共4页
Chinese Journal of Practical Internal Medicine
