Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Semin Pediatr Neurol. 2012 Jun;19(2):82-6. doi: 10.1016/j.spen.2012.03.007.
Neurodegeneration with brain iron accumulation (NBIA) includes a heterogeneous group of genetically defined disorders characterized by progressive extrapyramidal deterioration and iron accumulation in the basal ganglia. Current medical options for these disorders remain largely unsatisfactory and do not prevent the disease from progressing to a severe and disabling state. In select cases, surgical techniques, such as deep brain stimulation, may be effective in ameliorating some of the symptoms of the disease. The availability of chelating agents with specific properties that have been demonstrated to be effective in other disorders with regional iron accumulation as well as magnetic resonance imaging techniques that allow for quantitative assessment of iron have stimulated interest in the use of chelating agents in NBIA. This review aims to describe the role of surgical therapies in NBIA, discuss the use of chelating agents in NBIA, and presents new therapeutic approaches under consideration.
神经退行性伴脑铁沉积（NBIA）包括一组异质性的遗传性疾病，其特征为进行性锥体外系损害和基底节铁沉积。目前，这些疾病的治疗选择仍然不尽人意，无法阻止疾病进展至严重致残状态。在某些情况下，手术技术，如深部脑刺激，可能对改善疾病的某些症状有效。具有特定特性的螯合剂的可用性已在其他具有区域性铁沉积的疾病中得到证实，并且磁共振成像技术允许对铁进行定量评估，这激发了人们对螯合剂在 NBIA 中的应用的兴趣。这篇综述旨在描述手术治疗在 NBIA 中的作用，讨论螯合剂在 NBIA 中的应用，并介绍正在考虑的新的治疗方法。
