摘要
目的探讨克罗恩病(Crohn’s disease,CD)合并红斑肢痛症(erythromelalgia,EM)的临床特点及其诊断和治疗。方法整理分析1例克罗恩病合并红斑肢痛症的13岁女童的临床表现、实验室和内镜检查结果、SCN9A基因分析和随访资料,并进行相关文献复习。结果患儿临床表现为食欲减退、乏力伴腹泻,双下肢端皮肤肿胀呈暗红色,肤温高并伴烧灼样疼痛。内镜检查见结肠呈多发性溃疡和息肉样隆起,病理检查提示为结肠黏膜局部脓肿形成。基因分析排除SCN9A基因突变。经口服泼尼松和美沙拉嗪,并联合双嘧达莫和低分子肝素钙治疗后,患儿临床症状渐获缓解。结论克罗恩病合并红斑肢痛症罕见,其发病机制可能与免疫因素、血小板增多和血液高凝状态等因素有关。应用糖皮质激素和5-氨基水杨酸并联合抗凝药物治疗可获得较好疗效。
Objectives To explore the clinical features,diagnosis and treatment of Crohn’s disease complicated by erythromelalgia（EM） in a pediatric case.Methods The clinical manifestation,results of laboratory testing and endoscopy,mutational analysis of the SCN9A gene,and the follow-up record were collected and analyzed based on review of literature to a thirteen-year-old girl with Crohn’s disease complicated by erythromelalgia.Results The patient experienced symptoms of anorexia,fatigue,diarrhea,dark red and swelling skin,increased skin temperature and burning pain in her both lower extremities during the course of disease.The endoscopic findings included multiple ulcerations and polypoid protrusion lesion in colon,and the pathological examination showed the local abscess formation in colonic mucosa.The mutation in SCN9A gene of the child was excluded by gene analysis.The symptoms were gradually ameliorated after treatment using prednisone and mesalazine combined with dipyridamole and low-molecular-weight heparin calcium.Conclusions Crohn’s disease complicated by erythromelalgia is rare.The pathogenesis may relate to immune factors,thrombocytosis,and hypercoagulable states,etc.The combination of glucocorticoids,5-aminosalicylic acid and anticoagulants may lead to a better therapeutic effect.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2013年第8期774-778,共5页
Journal of Clinical Pediatrics
关键词
克罗恩病
红斑肢痛症
内镜检查
肠外表现
发病机制
Crohn’s disease
erythromelalgia
endoscopy
extraintestinal manifestations
pathogenesis
