神经退行性变伴脑铁沉积症发病机制及治疗研究进展

Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation

摘要:

神经退行性变伴脑铁沉积症是一组由基因变异导致的罕见的神经遗传变性疾病，总体发病率为2/1 000 000~3/1 000 000，该病以铁离子沉积于中枢神经系统，尤其是基底神经节区为特点，临床主要表现为锥体外系症状。根据致病基因的不同，目前将该病分为14种亚型。但其相关的发病机制及治疗尚不明确。为此，该文总结神经退行性变伴脑铁沉积症的发病机制及治疗研究进展，帮助儿科医师全面认识该病，也为后续治疗研究提供参考。

Abstract:

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.