25例儿童范可尼贫血的临床特征和治疗分析  

Clinical characteristics and treatment analysis of 25 Fanconi anemia children

作　　者：资娟 肖剑文[1] 管贤敏[1] 郭玉霞[1] 于洁[1] 温贤浩[1] ZI Juan;XIAO Jianwen;GUAN Xianmin;GUO yuxia;YU Jie;WEN Xianhao(Hematology and Oncology Department,Chiledren′s Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders(Chongqing),China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Pediatrics,Chongqing Engineering Research Center of Stem Cell Therapy,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科,儿童发育疾病研究教育部重点实验室,国家儿童健康与疾病临床医学研究中心,儿童发育重大疾病国家国际科技合作基地,儿科学重庆市重点实验室,重庆市干细胞治疗工程技术研究中心,重庆400014

出　　处：《中国小儿血液与肿瘤杂志》2022年第2期101-105,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的探讨儿童范可尼贫血(FA)的临床特征、基因特点及预后。方法回顾性分析2012年1月—2019年9月在重庆医科大学附属儿童医院诊断的25例FA患儿的临床资料。结果伴有先天畸形者9例(36%),所有患儿均发生骨髓衰竭,无患儿发生恶性肿瘤。有先天畸形的患儿治疗6月后病情更易进展。染色体断裂试验阳性率达55%(11/20)。FANCA致病突变最常见(50%),其次为FANCP(17%)。7例患儿进行了HSCT,4例发生了肠道GVHD,接受全相合供体的患儿均恢复正常的造血功能。结论FANCA突变致病最常见,伴有先天畸形者应积极治疗,移植后GVHD发生率偏高,有HSCT适应症的患儿应权衡利弊后做出选择,尽量选择全相合供体进行移植。Objective To analysis the clinical features,genetic characteristics and outcome of Fanconi anemia(FA)children.Methods Clinical data of 25 FA children hospitalized in the Children′s Hospital of Chongqing Medical University from January 2012 to September 2019 were analyzed retrospectively.Results There were 9 cases(36%)with congenital malformations.All the children suffered from bone marrow failure,and none processed to tumor or cancer.Children with congenital malformations were more likely to progress after 6 months of treatment.The positive rate of Chromosome Breakage Test was 55%(11/20).The most common pathogenic mutation was FANCA,accounting for 50%,followed by FANCP(17%).Seven children underwent hematopoietic stem cell transplantation(HSCT),and the intestinal graft versus host disease(GVHD)was occurred in 4 cases.The children who received HLA-matched donor restored to normal hematopoietic function.Conclusions FANCA mutation is the most common mutation.FA children with congenital malformations should be treated actively.The incidence of GVHD after HSCT is relatively high,and children with HSCT indications should make a choice after weighing the advantages and disadvantages,and try to choose HLA-matched donor for transplantation.

关 键 词：范可尼贫血 儿童 基因 预后 

分 类 号：R72[医药卫生—儿科]