| SNX10基因突变致婴儿恶性石骨症1例并文献复习 |
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| 引用本文： | 周婷,曾彩霞,席琼,杨作成. SNX10基因突变致婴儿恶性石骨症1例并文献复习[J]. 中南大学学报(医学版), 2021, 46(1): 108-112. DOI: 10.11817/j.issn.1672-7347.2021.190322 |
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| 作者姓名： | 周婷 曾彩霞 席琼 杨作成 |
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| 作者单位： | 中南大学湘雅三医院儿科,长沙410013;中南大学湘雅三医院儿科,长沙410013;中南大学湘雅三医院儿科,长沙410013;中南大学湘雅三医院儿科,长沙410013 |
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| 基金项目： | 中南大学湘雅三医院“新湘雅人才工程”项目(20150312)。 |
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| 摘 要： | 中南大学湘雅三医院儿科收治1例SNX10基因突变致婴儿恶性石骨症(infantile malignant osteopetrosis,IMO)患儿.该患儿临床表现为贫血、肝脾肿大、生长发育迟缓,X线检查提示全身骨密度广泛增高,临床诊断为IMO.基因测序为SNX10基因c.61C>T纯合突变.通过对国内外相关文献进行复习...
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| 关 键 词： | 婴儿恶性石骨症 SNX10 造血干细胞移植 |
SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review |
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| ZHOU Ting,ZENG Caixia,XI Qiong,YANG Zuocheng. SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review[J]. Journal of Central South University. Medical sciences, 2021, 46(1): 108-112. DOI: 10.11817/j.issn.1672-7347.2021.190322 |
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| Authors: | ZHOU Ting ZENG Caixia XI Qiong YANG Zuocheng |
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| Affiliation: | Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China |
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| Abstract: | A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO)was admitted to Department of Pediatrics, Third Xiangya Hospital, Central SouthUniversity. The patient had the symptom of anemia, hepatosplenomegaly and growthretardation. The X-ray examination suggested extensive increase of bone densitythroughout the body, which was clinically diagnosed as IMO. The homozygous mutation ofSNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literaturesand found that anemia, visual and hearing impairment, hepatosplenomegaly are the mainclinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, andhematopoietic stem cell transplantation is an effective treatment. |
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| Keywords: | infantile malignant osteopetrosis SNX10 hematopoietic stem cell transplantation |
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