摘要
目的:分析4种原发性免疫缺陷病(primary immunodeficiency disease, PID)的临床感染情况和皮肤特征,帮助皮肤科医师早期识别并诊断这4种疾病。方法:回顾性分析2003年1月至2016年7月在我院确诊的87例年龄为1个月~15岁的PID患者的临床感染情况和皮肤特征性表现,其中36例为慢性肉芽肿病(chronic granulomatous disease, CGD),14例为高IgE综合征(hyper-IgE syndrome, HIES),22例为严重联合免疫缺陷病(severe combined immunodeficiency,SCID),15例为Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome, WAS)。结果:87例经临床和基因诊断确诊为PID的患者中,男性为79例,女性为8例,其临床感染情况主要为呼吸道感染(82.76%)、器官脓肿(52.87%)、胃肠道感染(48.28%)、脓毒血症(25.29%)、EB病毒或巨细胞病毒感染(6.90%)。PID患者的皮肤表现主要为早期反复出现的皮肤感染(51.72%),其中细菌感染发生率为42.53%,真菌感染发生率为32.18%,此外还表现为湿疹样(42.53%)、皮肤紫癜(17.24%)等其他一些特征性表现。CGD以早期反复出现的皮肤细菌感染为主,出生不久即有顽固的湿疹和皮肤感染是HIES的主要皮肤表现,SCID则以皮肤黏膜的机会性感染较常见,WAS以皮肤瘀点瘀斑和湿疹表现为主。结论:感染是PID患者的共同特征,而皮肤感染往往是早期识别免疫缺陷的重要临床表现,应予以重视。
Objective: To investigate the infectious and skin manifestations of four common primary immunodeficiency diseases(PID) for helping the dermatologists to identify and diagnose these four PID diseases. Methods: A retrospective analysis was performed on 87 patients with PID diagnosed in our hospital from January 2003 to July 2016. Among them, 36 patients were diagnosed as chronic granulomatous disease(CGD), 14 patients as hyper-IgE syndrome(HIES), 22 patients as severe combined immunodeficiency(SCID), and 15 patients as Wiskott-Aldrich syndrome(WAS). Results: A total of 87 patients were diagnosed as PID by clinical and genetic diagnosis, including 79 males and 8 females. The main clinical infections were pneumonia(82.76%), organ abscess(52.87%), gastrointestinal tract infection(48.28%), thrush(26.44%), sepsis(25.29%) and EBV or CMV infection(6.90%). The main skin manifestations were skin infections(51.72%), including bacterial infections(42.53%), fungal infections(32.18%). Skin manifestations also included eczema-tous lesions(42.53%), skin purpura(17.24%) and other characteristic manifestations. Repeated skin bacterial infections were observed in CGD patients early;atopic dermatitis and skin infections in early postnatal period were the main manifes-tations in HIES patients;opportunistic infections of skin and mucosa were common in SCID patients;skin purpura and ec-chymosis and eczema were often seen in WAS patients. Conclusions: Infection is a common feature of PIDs. Skin infection is an important clinical manifestation for early recognition of immunodeficiency, which should be evaluated by derma-tologists.
作者
刘晓依
陈琢
吴静
金莹莹
陈同辛
陈戟
LIU Xiaoyi;CHEN Zhuo;WU Jing;JIN Yingying;CHEN Tongxin;CHEN Ji(Shanghai 200127,Department of Dermatology,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine;Department of allergic Immunology,Shanghai Children's Medical Center,Medical College of Shanghai Jiaotong University,Shanghai 200127)
出处
《诊断学理论与实践》
2019年第4期442-447,共6页
Journal of Diagnostics Concepts & Practice
关键词
原发性免疫缺陷病
慢性肉芽肿病
高IGE综合征
严重联合免疫缺陷病
WAS综合征
感染
皮肤表现
Primary immunodeficiency diseases
Chronic granulomatous disease
Hyper-IgE syndrome
Severe combined immunodeficiency
Wiskott-Aldrich syndrome
Infections
Skin manifestations
