白塞病合并8号染色体三体22例分析及文献复习  

Analysis of 22 cases of Behcet’s disease associated with trisomy 8 and literature review

作　　者：马海芬[1] 申艳[1] 罗丹[1] 蔡剑飞[1] 邹峻[1] 管剑龙[1] MA Hai-fen;SHEN Yan;LUO Dan;CAI Jian-fei;ZOU Jun;GUAN Jian-long(Department of Rheumatology and Immunology,Huadong Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]复旦大学附属华东医院风湿免疫科,上海200040

出　　处：《复旦学报（医学版）》2021年第4期457-462,共6页Fudan University Journal of Medical Sciences

基　　金：上海申康医院发展中心临床科技创新项目(SHDC12017129);国家自然科学基金面上项目(81871276)。

摘　　要：目的探讨分析8号染色体三体异常白塞病(Behcet’s disease,BD)患者的临床特点。方法分析2012年10月至2020年7月复旦大学附属华东医院收治的22例8号染色体三体BD的住院患者,并检索中英文文献库中BD合并8号染色体三体的患者共46例,对临床特点进行比较分析。结果22例8号染色体三体的BD患者中,男5例、女17例;平均发病年龄(45.6±11.4)岁。临床特点包括复发性口腔溃疡(100%),外周血细胞减少(100%),外阴溃疡(86.4%),皮肤损害(63.6%),针刺反应阳性(46.4%)和关节炎(27.3%)。所有患者均出现骨髓细胞形态学的异常,5例表现符合骨髓增生异常综合征(myelodysplastic syndromes,MDS)(22.7%),15例合并肠道溃疡(68.2%),1例(4.5%)头颅MRI发现左侧小脑半球异常信号灶(约20 mm×15 mm)、灶周水肿,可能为低级别胶质瘤所有患者均无眼睛、心脏和血管受累。与文献检索的46例患者比较,我院收治的22例患者仅合并MDS的比例不同(P<0.001),其余表现均相符。5例患者表现符合MDS(22.7%),其余17例患者表现出不同程度的骨髓细胞形态异常,合并MDS与不合并MDS患者临床指标进行比较,血红蛋白有显著差异(P<0.05),发病年龄、性别、肠溃疡、白细胞、血小板、ESR、CRP等均无明显差异。与不合并8号染色体三体BD的患者比较,合并8号染色体三体的患者女性占多数(P=0.040),眼睛损害少见(P=0.033),肠溃疡多发(P<0.001)以及更易合并MDS(P<0.001),两组患者的口腔溃疡、外阴溃疡、关节炎、皮肤损害、神经系统病变、血管病变以及心脏病变均无显著差异。结论8号染色体三体的BD患者常见外周血细胞减少症和肠溃疡,在诊断、治疗及预后均有别于典型的BD或MDS。Objective To investigate the clinical characteristics of trisomy 8 in the pathogenesis of Bechcet’s disease(BD).Methods We analyzed 22 BD with trisomy 8 patients admitted to Huadong Hospital,Fudan University from Oct 2012 to Jul 2020,and retrieved 46 cases of BD combined with trisomy 8 from Chinese and English literature database,the clinical characteristics were compared and analyzed.Results Among 22 BD patients with trisomy 8,there were 5 males and 17 females,and the mean age of onset was(45.6±11.4)years.The clinical features included recurrent oral ulcers(100%),peripheral blood loss(100%),vulvar ulcers(86.4%),skin lesions(63.6%),positive acupuncture reaction(46.4%)and arthritis(27.3%).Myelodysplastic syndromes(MDS)were found in 5 patients(22.7%),intestinal ulcers in 15 patients(68.2%),and MRI of one patient(4.5%)showed abnormal signal foci in the left cerebellum(20 mm×15 mm),with slight edema around the foci,and possibly gliomas.No ocular,cardiac or vascular involvement was found in all patients.Compared with 46 patients from literature search,the rate of MDS was different(P<0.001),the other manifestations were consistent.Five patients showed MDS(22.7%),and the other 17 patients showed abnormal bone marrow cells in different degrees.Between MDS and no MDS patients,there was significant difference in hemoglobin(P<0.05),but no significant differences in age,sex,intestinal ulcer,white blood cell,platelet,ESR and CRP.Compared with BD without trisomy 8,women were more common in group of BD with trisomy 8(P=0.040),less eye damage(P=0.033),more intestinal ulcers(P<0.001)and were more likely to complicated with MDS(P<0.001)in group of BD with trisomy 8.There were no significant differences in oral ulcers,vulvar ulcers,arthritis,skin lesions,nervous system lesions,vascular lesions and heart disease between patients with and withrout trisomy 8.Conclusion BD with trisomy 8 patients are more likely to suffer from peripheral blood cytopenia and intestinal ulcers.The pathogenesis of BD with trisomy 8 is unknown,which is

关 键 词：白塞病(BD) 8号染色体三体 骨髓增生异常综合征(MDS) 肠溃疡 

分 类 号：R593[医药卫生—内科学]