| 摘要: |
| 目的:探讨ALDH7A1 吡哆醇依赖性癫痫(PDE)遗传性、临床特点及治疗。方法:收集1 例ALDH7A1 基因复合杂合突变
致患儿癫痫发作伴发育落后临床及遗传学资料,并通过千人基因组计划数据库、基因组突变频率数据库(gnomAD)、PubMed、中
国知网、万方数据库检索ALDH7A1、PDE 相关遗传学特点、临床表现、治疗及预后。结果:本例患儿ALDH7A1 基因复合杂合突
变,其中染色体片段chr5:125447815-125906193 倒位,国内外均未见报道,为首次报道。结论:ALDH7A1 基因复合杂合突变致
PDE 是少见的遗传代谢性疾病,表型谱较广泛,早期进行生物标志物测定及基因检测可减少漏诊和误诊,改善患儿神经系统发
育结局。 |
| 关键词: 吡哆醇依赖性癫痫 ALDH7A1 维生素B6 临床表现 治疗 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2024.02.011 |
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| 基金项目: |
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| A Cases of Pyridoxine-Dependent Epilepsy Induced by ALDH7A1 Compound Heterozygous Mutation andLiterature Review |
| Xu Lei, Shen Yanfeng, Zhang Guixiang |
| ((Dalian Women and Children’s Medical Group, Liaoning Dalian 116011, China)) |
| Abstract: |
| Objective: To probe into the heritability, clinical characteristics and treatment of pyridoxine-dependent epilepsy induced by ALDH7A1 compound heterozygous mutation. Methods: Clinical and genetic data of a child with epilepsy complicated with developmental delay induced by ALDH7A1 compound heterozygous mutation were collected. The genetic characteristics, clinical manifestations, treatment and prognosis of ALDH7A1 gene and PDE were retrieved through 1,000 Genome Project, Genome Aggregation Database (gnomAD), PubMed, CNKI and Wanfang database. Results: This case was the first report of a compound heterozygous mutation in ALDH7A1 gene, in which the chromosomal segment chr5:125447815-125906193 was inverted, which had not been reported at home and abroad. Conclusion: PDE induced by ALDH7A1 compound heterozygous mutation is a kind of rare inherited metabolic disorders with a broad phenotypic spectrum, early biomarker assays and genetic testing can reduce underdiagnosis and misdiagnosis and improve neurodevelopmental outcomes in children. |
| Key words: pyridoxine-dependent epilepsy ALDH7A1 vitamin B6 clinical manifestations treatment |
