线粒体 DNA 耗竭综合征 4A
基因病名称(英)
Mitochondrial DNA depletion syndrome 4A
关键字(英)
Neurodegeneration,Primary mitochondrial disease
别名(英)
AHS,Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis,Alpers-Huttenlocher syndrome,Alpers progressive infantile poliodystrophy,Alpers syndrome,Mitochondrial DNA depletion syndrome 4A Alpers type,Neuronal degeneration of childhood with liver disease progressive,PNDC
别名
AHS，Alpers 弥漫性脑灰质变性伴肝硬化，Alpers-Huttenlocher 综合征，Alpers 进行性婴儿脊髓灰质炎，Alpers 综合征，线粒体 DNA 耗竭综合征 4A Alpers 型，儿童神经元变性伴肝病进行性，PNDC
统计
reviewed:1; annotated:0
交叉引用
203700,C0205710,D002549
描述(英)
An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.
描述
由于线粒体功能障碍导致的常染色体隐性肝脑综合征。该病的典型病程包括严重的发育迟缓、顽固性癫痫发作、肝功能衰竭和儿童期死亡。暴露于丙戊酸后的难治性癫痫发作、皮质盲、进行性肝功能障碍和急性肝功能衰竭被认为是诊断特征。神经病理学特征是视觉皮层的神经元丢失、海绵状变性和星形胶质细胞增多症。肝活检结果显示脂肪变性，通常进展为肝硬化。