儿童脑白质营养不良的临床遗传学研究进展

Research advances in the clinical genetics of leukodystrophy in children

摘要:

脑白质营养不良（leukodystrophy，LD）是一组以原发性神经胶质细胞和髓鞘异常为特征的遗传异质性疾病，是常见的儿童神经系统疾病，具有显著的基因型-表型相关性。近年来，高通量测序技术的进步改变了LD的诊疗模式，发育过程中自然病史的采集和多模态神经影像学的评估等精细化的表型分析为临床遗传诊断提供了重要参考。该文从临床遗传学角度切入对LD展开综述，旨在提升我国儿科医师对该病的整体认识。

Abstract:

Leukodystrophy (LD) is a group of genetic heterogeneous diseases characterized by primary abnormalities in glial cells and myelin sheath, and it is a common nervous system disease in children and has significant genotype-phenotype correlation. In recent years, the improvement in high-throughput sequencing has changed the diagnostic and therapeutic mode of LD, and elaborative phenotype analysis, such as the collection of natural history and multimodal neuroimaging evaluation during development, also provides important information for subsequent genetic diagnosis. This article reviews LD from the perspective of clinical genetics, in order to improve the awareness of this disease among pediatricians in China.