Progress on familial acute necrotizing encephalopathy

VernacularTitle:家族性急性坏死性脑病的研究进展
Author: Shun WANG ¹ ; Chao DAI ; Danqun JIN ; Yuanyuan XU
Author Information

1. 安徽医科大学儿童医学中心　安徽省儿童医院重症医学科,合肥　230051
Keywords: Acute necrotizing encephalopathy; Familial; Recurrent; Gene
From: International Journal of Pediatrics 2024;51(8):558-562
CountryChina
Language:Chinese
Abstract: Familial acute necrotizing encephalopathy，also known as acute necrotizing encephalopathy type 1（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.