低剂量地西他滨治疗NDUFB11基因突变（c.276_278del）患者先天性铁母细胞性贫血1例报告

IF 3 4区医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL

Current Research in Translational Medicine Pub Date : 2025-09-09 DOI:10.1016/j.retram.2025.103542

Juan Wang , Heng Li , Nan Lv , Min Wang , Hongyu Zhao

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引用次数: 0

摘要

先天性铁母细胞性贫血（csa）是一种由线粒体蛋白缺陷引起的遗传性血液疾病。NDUFB11基因对线粒体复合体Ⅰ蛋白的组装至关重要。NDUFB11基因突变可导致铁母细胞性贫血伴高乳酸血症、小眼症、心肌病和脑肌病，治疗选择有限。我们报告了一位35岁男性先天性铁母细胞性贫血，骨骼发育不良和高乳酸血症。骨骼肌染色提示线粒体疾病的可能性。通过全外显子组测序，我们发现该患者的NDUFB11基因突变（c.276_278delCTT）遗传自其母亲。患者对维生素B2、维生素B6、辅酶Q10、依地苯酮、促红细胞生成素等治疗无反应，但经低剂量地西他滨治疗后，患者血红蛋白浓度升高，输血不依赖，生活质量改善。结论NDUFB11基因c.276_278del （p.F93del）突变可能与表观遗传因素有关，低剂量地西他滨可能是CSA NDUFB11基因c.276_278del （p.F93del）突变患者的一种新的治疗方法。

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Successful treatment of congenital sideroblastic anemia with low-dose decitabine in a patient with NDUFB11 gene mutation (c.276_278del): A case report

Background

Congenital sideroblastic anemias (CSAs) are an inherited group of blood disorders due to defects of mitochondrial proteins. The NDUFB11 gene is essential for the assembly of mitochondrial complex Ⅰ protein. Mutations in the NDUFB11 gene can cause sideroblastic anemia with hyperlacticemia, microphthalmia, cardiomyopathy and encephalomyopathy with limited therapeutic options.

Case presentation

We reported a 35-year-old man with congenital sideroblastic anemia, skeletal dysplasias and hyperlacticemia. The skeletal muscle stains indicated probability of mitochondrial disorders. By whole-exome sequencing, we identified a mutation (c.276_278delCTT) in NDUFB11 gene in this patient which was inherited from his mother. He was unresponsive to the treatment of vitamin B2, vitamin B6, Coenzyme Q10, idebenone, or EPO but achieved hemoglobin concentration rise, transfusion independence and improvement of quality life after treated with low dose decitabine.

Conclusions

We proposed that epigenetic factors might play a role in pathogenesis in patients with c.276_278del (p.F93del) mutation in NDUFB11 gene and low dose decitabine may be a novel treatment in CSA patients with c.276_278del (p.F93del) mutation in NDUFB11 gene.

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来源期刊

Current Research in Translational Medicine Biochemistry, Genetics and Molecular Biology-General Biochemistry,Genetics and Molecular Biology

CiteScore

7.00

自引率

4.90%

发文量

审稿时长

45 days

期刊介绍： Current Research in Translational Medicine is a peer-reviewed journal, publishing worldwide clinical and basic research in the field of hematology, immunology, infectiology, hematopoietic cell transplantation, and cellular and gene therapy. The journal considers for publication English-language editorials, original articles, reviews, and short reports including case-reports. Contributions are intended to draw attention to experimental medicine and translational research. Current Research in Translational Medicine periodically publishes thematic issues and is indexed in all major international databases (2017 Impact Factor is 1.9). Core areas covered in Current Research in Translational Medicine are: Hematology, Immunology, Infectiology, Hematopoietic, Cell Transplantation, Cellular and Gene Therapy.