SBDS基因突变相关血细胞减少患儿的临床特点分析  

Clinical characteristics of children with SBDS gene mutation related pancytopenia

作　　者：胡政斌 伍巧微 李卓燕 张伟娜 孙新 江华[1] HU Zhengbin;WU Qiaowei;LI Zhuoyan;ZHANG Weina;SUN Xin;JIANG Hua(Department of Hematology and Oncology, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University, Guangzhou 510623, China;Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心血液肿瘤科,广东510623 [2]上海交通大学医学院附属新华医院,上海200092

出　　处：《中国小儿血液与肿瘤杂志》2022年第2期97-100,105,共5页Journal of China Pediatric Blood and Cancer

基　　金：国家自然基金(青年)项目(81800140)。

摘　　要：目的探讨Shwachman-Bodian-Diamond syndrome(SBDS)基因突变相关血细胞减少儿童的临床特点。方法回顾性分析我院7名SBDS基因相关血细胞减少患儿的临床资料及基因信息,描述这些患儿的临床特点及诊治经过。结果7名患儿均携带SBDS基因突变,其中4名患儿携带SBDS基因复合杂合突变,表现为骨髓造血衰竭,并伴其他系统异常,诊断为Shwachman-diamond syndrome(SDS);另外3名患儿携带杂合c.258+2T>C突变,仅表现为血细胞减少。不同患儿的治疗方案及效果不同,1名SDS患儿药物治疗效果欠佳,其他患儿处于临床稳定状态。所有患儿至今未发生恶性转化。结论SDS患儿的临床表现可能不典型,临床医师应引起重视。SBDS杂合突变携带者可表现为血细胞减少,杂合c.258+2T>C突变可能是其易感因素之一。Objective To investigate the clinical characteristics of children with Shwachman-Bodian-Diamond syndrome(SBDS)gene mutation related pancytopenia.Methods Clinical data and genetic information of 7 children with SBDS gene mutation related pancytopenia in Guangzhou Women and Children′s Medical Center were analyzed retrospectively,and the clinical characteristics,diagnosis and treatment of these children were described.Results All 7 children had SBDS mutations,including 4 children with complex heterozygous mutations,they had bone marrow hematopoietic failure and other system abnormalities,and were diagnosed as Shwachman-diamond syndrome(SDS).The other 3 children carried heterozygous C.258+2T>C mutation and only presented with pancytopenia.The treatment plan and effect of different children were variant.One child with SDS had poor drug treatment effect,and the other children had clinical stable state.Until the last follow-up,no evidence of malignant transformation has been found in all children.Conclusions The clinical manifestations of SDS patients may be atypical and should be taken seriously by clinicians.Heterozygous mutation carriers of SBDS can also present with hemocytopenia,and the heterozygous c.258+2T>C mutation may be one of the susceptibility factors.

关 键 词：SBDS基因 Shwachman-diamond syndrome 杂合突变 血细胞减少 

分 类 号：R72[医药卫生—儿科]