目的 总结慢性皮肤黏膜念珠菌患儿(CMC)的临床特点及诊治要点.方法 对深圳市儿童医院肾脏免疫科2014年2月24日收治的1例CMC患儿的症状、体征、实验室检查、基因诊断结果、治疗过程进行分析,并进行相关文献复习.结果 患儿,男,14岁.出生后不久即出现反复的口腔黏膜念珠菌感染,随后渐出现皮肤、甲床的念珠菌感染,抗真菌药物能控制,但易反复,4年前逐渐出现自身免疫性贫血、血小板减少、白细胞减少、蛋白尿、甲状腺功能减低等自身免疫反应,予激素及环孢素治疗,血细胞减少可恢复正常,减量后又复发.基因检测证实为STAT1基因功能获得性基因突变.住院过程中先后出现噬血细胞综合征、造血功能停滞等,先后输注洗涤红细胞13次和血小板3次,并给予大剂量地塞米松联合环孢素治疗,效果差,且合并严重感染,重组人粒细胞集落刺激因子联合地塞米松和环孢素治疗后,患儿外周血和骨髓象逐渐恢复正常.检索PubMed数据库中CMC报道824篇,有关STAT1基因突变的39篇,报告约120例.国内报道1例3岁STAT1突变所致CMC患儿,主要表现为反复皮肤黏膜真菌感染.结论 STAT1基因功能获得性突变是导致CMC的原因之一,少数患儿可表现为以血细胞减少为突出表现的自身免疫反应,对CMC合并血液系统自身免疫反应应高度警惕本病,基因诊断有助早期诊断.%Objective To summarize the clinical characteristics,diagnosis and treatment of chronic mucocutaneous candidiasis(CMC).Methods The case diagnosed as CMC in the Department of Nephrology and Immunology of Shenzhen Children's Hospital in February 24,2014 was analyzed in terms of symptoms,signs,laboratory findings,gene tests and treatment process,and related literature was reviewed.Results The patient was a 14-year-old boy.The patient started to develop recurrent oral candida infection shortly after birth,then candida infection of skins and nails,which could be alleviated by antifungal agents,but easily relapsed.Since 4 years ago,autoimmune reactions such as autoimmune anemia,thrombocytopenia,leucopenia,proteinuria,and hypothyroidism had successively appeared,and cytopenia began to palliate after administering Glucocorticoid and Cyclosporin,but easily relapsed when the dosage was reduced.The genetic test showed the case was of signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.During the hospitalization,hemophagocytic syndrome (HPS) and stagnation of hematopoietic function successively occurred.The cytopenia did not improve and the patient suffered severe infection in spite of washing red blood cells 13 times and blood palate 3 times via infusion,together with high dosage of Dexamethasone and Cyclosporine.The peripheral blood cells and bone marrow gradually returned to normal after being treated by human granulocyte colony-stimulating factor combined with Dexamethasone and Cyclosporin.Retrieving the database in PubMed database,824 articles were found which were about CMC,and 39 of them were about the STAT1 gain-of-function mutation,including 120 cases.But there was only 1 domestic case in 2012,who was a three-year-old child,manifesting recurrent fungal infection of the skin.Conclusions STAT1 gain-of-function acquired mutation is one of the reasons that can lead to CMC.Autoimmune reactions prominently represented by cytopenia occur in a few patients with CMC.It should be alert on those who are with CMC and simultaneously with autoimmtne reaction of blood system.And gene tests facilitate the early diagnosis.
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