青少年GATA2缺陷继发骨髓增生异常综合征一例并文献复习  

A Case of Adolescent with GATA2 Defect Secondary to Myelodysplastic Syndrome and Literature Review

作　　者：沈元元[1] 陶千山[1] 王佳 谢蓓蓓 董毅 SHEN Yuan-yuan;TAO Qian-shan;WANG Jia;XIE Bei-bei;DONG Yi(Department of Blood Specialty,The Second Affiliated Hospital of Anhui Medical University,Hefei,Anhui,230601,China)

机构地区：[1]安徽医科大学第二附属医院血液内科,安徽合肥230601

出　　处：《现代生物医学进展》2021年第13期2499-2502,共4页Progress in Modern Biomedicine

基　　金：安徽省科技厅科技攻关项目(12010402c195)。

摘　　要：目的:提高对青少年GATA2缺陷继发骨髓增生异常综合征(MDS)疾病的认识。方法:回顾性分析我院收治的1例青少年GATA2缺陷继发MDS患者的诊疗过程,并结合相关文献进行复习总结。结果:患者男,17岁,2018年6月于我科诊断为MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危),继发骨髓纤维化。完善血液遗传全外显子基因检查提示患者GATA2基因突变。修正诊断为GATA2缺陷综合征、继发MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危)、继发骨髓纤维化。完善患者姐姐血常规检查提示白细胞轻度减少,检查患者姐姐GATA2基因检测到GATA2基因错义突变。患者治疗期间反复出现多部位感染。进一步检查患者父母GATA2基因提示患者父亲GATA2基因存在错义突变。患者GATA2基因突变系父系遗传。结论:对于青少年MDS患者,应对其进行血液遗传学全外显子基因检查以确认其有无先天性疾病;对于存在先天性基因突变的患者,建议行家系筛查,并尽早行造血干细胞移植治疗。Objective: To improve the understanding of adolescent with GATA2 defects secondary to myelodysplastic syndrome(MDS). Methods: The diagnosis and treatment process of 1 adolescent with GATA2 defect secondary to MDS who were admitted to our hospital was analyzed retrospectively, and the relevant literature was combined for review and summary. Results: The patient, a17-year-old male, was diagnosed as MDS(MDS-EB-I, IPSS intermediate-risk-1;WPSS high-risk;IPSS-R high risk), in Our department in June 2018, secondary to myelin fibrosis. Perfect blood genetic allexon gene examination suggested GATA2 gene mutation in patients.The modified diagnosis was GATA2 defect syndrome with secondary MDS(MDS-EB-I, IPSS intermediate-risk-1;WPSS high-risk;IPSS-R high risk) and secondary myelin fibrosis. The improved blood routine examination of the patient’s sister indicated a slight decrease in white blood cells, and the examination of the sister’s GATA2 gene detected a missense mutation of GATA2 gene. Multiple site infection occurred repeatedly during treatment. Further examination of the patient’s parents’ GATA2 gene indicated that the patient’s father’s GATA2 gene had missense mutation. Patients with GATA2 gene mutation were paternally inherited. Conclusion: For adolescent patients with MDS, blood genetical exon gene examination should be performed to confirm whether they have congenital diseases. For patients with congenital genetic mutations, it is recommended that experts be screened and undergo hematopoietic stem cell transplantation therapy as soon as possible.

关 键 词：青少年 GATA2 基因突变 骨髓增生异常综合征 

分 类 号：R551.3[医药卫生—血液循环系统疾病]