| 曹佳颖,潘家华.先天性中性粒细胞减少症1例[J].安徽医药,2019,23(11):2236-2238. |
| 先天性中性粒细胞减少症1例 |
| A case of congenital neutrophilic granulocytosis |
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| DOI：10.3969/j.issn.1009?6469.2019.11.030 |
| 中文关键词: 中性粒细胞减少 基因筛查 基因突变 |
| 英文关键词: Neutropenia Genetic screening Genetic mutations |
| 基金项目: |
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| 摘要点击次数: 1997 |
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| 中文摘要: |
| 目的了解先天性中性粒细胞减少症( CN)相关新突变基因及突变位点并阐述诊疗过程及病儿转归。方法收集 1例 CN病儿疾病的发展、治疗、转归及血液系统异常相关单基因遗传病总筛查结果加并以分析总结。结果病儿 3月龄时因反复不明原因中性粒细胞减少行基因遗传病筛查，确诊先天性中性粒细胞减少症，后病儿因反复感染住院接受抗感染及升白等治疗，治疗过程中病儿临床症状可部分缓解，但白细胞及中性粒细胞较前无明显上升。现病儿密切随访中，病情暂且稳定，建议转入血液科进一步行造血干细胞移植治疗。结论血液系统异常相关单基因遗传病总筛查提示病儿系 ELANE基因突变，核酸突变 c.197T＞G(外显子 2)，氨基酸突变 DM66R，查阅文献显示该突变位点目前暂无报道。 |
| 英文摘要: |
| Objective To understand the new mutation genes and mutation sites associated with congenital neutropenia(CN)and elucidate the treatment process and to take in the outcome of children with congenital neutropenia.Methods The total screening results of disease development，treatment，reversion and blood system abnormality related single gene genetic diseases were collect?ed and analyzed in the case of CN children.Results A 3?month?old children with unknown reason of recurrent of neutropenia wasdiagnosed as congenital neutropenia through screening for genetic disorders.On account of being infected repeatedly，the child was treated with antibiotics and granulocyte colony?stimulating factor in the hospital.Due to treatments，clinical symptoms can be partial? ly alleviated in the process of treatment.However，the increase of white blood cells and neutrophils were not significantly.At present， the child is in follow?up closely，of whose condition is temporarily stable.It is recommended to be transferred to the hematology de?partment for further hematopoietic stem cell transplantation treatment. Conclusion Abnormal blood system total relevant single gene genetic disease screening suggests ELANE gene mutations，DNA mutation c. 197 T＞G(exon 2)， amino acid mutation |
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