家族性急性坏死性脑病又被称为急性坏死性脑病1型(acute necrotizing encephalopathy type 1,ANE1),是一种快速进展、致残率和病死率均高的罕见脑病.尽管其病因和发病机制尚不清楚,但已知RANBP2和CPT Ⅱ等基因的突变与其发生发展有关.此外,病原体感染和细胞因子风暴也是可能的影响因素.相比孤立性急性坏死性脑病,ANE1的临床表现更为多样化,使诊断和治疗变得复杂.目前,尚无针对ANE1的特效治疗策略,免疫调节治疗的效果仍存在争议,线粒体鸡尾酒疗法和白介素抑制剂具有一定的治疗潜力.ANE1预后通常不良,幸存者可能出现严重神经功能缺损,且存在复发风险.早期诊断和治疗对改善预后至关重要.
Progress on familial acute necrotizing encephalopathy
Familial acute necrotizing encephalopathy,also known as acute necrotizing encephalopathy type l(ANE1),is a rapidly progressing rare encephalopathy with high morbidity and mortality rates.Although the etiology and pathogenesis remain unclear,mutations in genes such as RANBP2 and CPTⅡ are known to be related to its occurrence and development.Additionally,pathogen infections and cytokine storms are also considered potential influencing factors.Compared to isolated acute necrotizing encephalopathy,the clinical manifestations of ANE1 are more diverse,making diagnosis and treatment more complex.Currently,there are no specific therapeutic strategies for ANE1,and the effectiveness of immunomodulatory therapy remains controversial.Mitochondrial cocktail therapy and interleukin inhibitors have shown some therapeutic potential.The prognosis for ANE1 is generally poor,with survivors likely to experience severe neurological deficits and have a risk of recurrence.Early diagnosis and treatment are crucial for improving prognosis.
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