| 摘要: |
| 目的:探讨黏多糖贮积症Ⅱ型的临床表现、基因型及其家系追踪。方法:回顾分析1 例黏多糖贮积症Ⅱ型患儿的临床资
料及基因检测,对其母系男性后代追踪分析,并复习相关文献。结果:先证者,男,8 岁6 个月,存在智能、语言、体格发育落后,
因反复呼吸道感染入院,伴特殊面容、舟型头、眉毛浓密、鼻梁低、口唇大而厚。基因测序发现患儿IDS 基因第9 号外显子
c. 1402C>T 核苷酸错义突变,该突变属半合子致病突变,来自患儿母亲;家系分析发现患儿母亲2 个胞妹均检测到携带该基因
杂合突变,其各所生1 名男孩基因型与患儿相同。结论:黏多糖贮积症Ⅱ型为X 连锁隐性遗传病,一旦发现先证患儿,建议追踪
其家系,以期及早发现致病患儿,尽早开始治疗。造血干细胞移植治疗效果较好。 |
| 关键词: 黏多糖贮积症Ⅱ型 IDS 基因 半合子突变 呼吸道感染 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2025.07.006 |
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| 基金项目: |
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| A Case Study of Diagnosis and Treatment of Mucopolysaccharidosis Type Ⅱ |
| Xue Wankai1, Lin Hongguo2, Lu Fanghai2, Xu Dong1, Zhou Xiuyun1, Huang Yongjian1 |
| ((1. Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China; 2. Tongji Wenchang Hospital, Huazhong
University of Science and Technology, Hainan Wenchang 571300, China)) |
| Abstract: |
| Objective: To explore the clinical features, genotype and familial tracing of mucopolysaccharidosis type Ⅱ. Methods:
Clinical data and genetic testing of a child with mucopolysaccharidosis type Ⅱ were retrospectively analyzed, and the male descendants
of the maternal lineage were also tracked and analyzed. Meanwhile, relevant literature was reviewed. Results: The proband was an 8-
year and 6-month-old male with mental, language, and physical developmental delays, who was admitted for recurrent respiratory tract
infections. He had a unusual facial appearance with a boat-shaped head, dense eyebrows, low nasal bridge, and large and thick lips.
Genetic sequencing revealed a missense mutation in exon 9 of the IDS gene, c. 1402C>T, which was a heterozygote pathogenic mutation
from his mother. Family lineage analysis revealed that both sisters of the child’s mother were detected to carry the heterozygous mutation
of the gene, and each of them had one boy with the same genotype as the affected child. Conclusion: Mucopolysaccharidosis type Ⅱ is an
X-linked recessive disorder, and it is recommended to trace the familial lineage of the proband, with a view to early detection of the affected
child and early initiation of treatment. Hematopoietic stem cell transplantation demonstrates a relatively favorable therapeutic outcome. |
| Key words: mucopolysaccharidosis typeⅡ IDS gene hemizygous mutation respiratory tract infections |
