Lichter-Konecki U
Center for Neuroscience Research, and Division of Genetics & Metabolism, Children's National Medical Center, Washington, DC 20010-2970, USA.
J Inherit Metab Dis. 2008 Aug;31(4):492-502. doi: 10.1007/s10545-008-0834-9. Epub 2008 Aug 9.
Acute hyperammonaemia (HA) causes cerebral oedema and severe brain damage in patients with urea cycle disorders (UCDs) or acute liver failure (ALF). Chronic HA is associated with developmental delay and intellectual disability in patients with UCDs and with neuropsychiatric symptoms in patients with chronic liver failure. Treatment often cannot prevent severe brain injury and neurological sequelae. The causes of the brain oedema in hyperammonaemic encephalopathy (HAE) have been subject of intense controversy among physicians and scientists working in this field. Currently favoured hypotheses are astrocyte swelling due to increased intracellular glutamine content and neuronal cell death due to excitotoxicity caused by elevated extracellular glutamate levels. While many researchers focus on these mechanisms of cytotoxicity, others emphasize vascular causes of brain oedema. New data gleaned from expression profiling of astrocytes acutely isolated from hyperammonaemic mouse brains point to disturbed water and potassium homeostasis as regulated by astrocytes at the brain microvasculature and in the perisynaptic space as a potential mechanism of brain oedema development in hyperammonaemia.
急性高氨血症(HA)可导致尿素循环障碍(UCD)或急性肝衰竭(ALF)患者出现脑水肿和严重脑损伤。慢性HA与UCD患者的发育迟缓及智力残疾相关,与慢性肝衰竭患者的神经精神症状相关。治疗往往无法预防严重脑损伤和神经后遗症。高氨血症性脑病(HAE)中脑水肿的病因一直是该领域医生和科学家激烈争论的话题。目前受到青睐的假说是,由于细胞内谷氨酰胺含量增加导致星形胶质细胞肿胀,以及由于细胞外谷氨酸水平升高引起的兴奋性毒性导致神经元细胞死亡。虽然许多研究人员专注于这些细胞毒性机制,但其他人则强调脑水肿的血管病因。从急性分离自高氨血症小鼠大脑的星形胶质细胞的表达谱分析中获得的新数据表明,星形胶质细胞在脑微血管和突触周围空间调节的水和钾稳态紊乱是高氨血症中脑水肿发展的潜在机制。