对一组阿根廷患者的急性肝卟啉症的临床、生化和遗传特征进行分析。
Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.
机构信息
Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), Hospital de Clínicas José de San Martín, CONICET-UBA, Buenos Aires, Argentina.
Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales - Universidad de Buenos Aires (UBA), Buenos Aires, Argentina.
出版信息
Mol Genet Genomic Med. 2021 May;9(5):e1059. doi: 10.1002/mgg3.1059. Epub 2021 Mar 25.
BACKGROUND
Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process.
METHODS
We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to identify a marker of neurological dysfunction.
RESULTS
We studied 116 AIP families and 30 VP families, 609 and 132 individuals, respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals.
CONCLUSION
No significant difference in oxidative stress parameters and homocysteine levels between the analyzed groups were found.
背景
急性肝性卟啉症（AHPs）的特征是急性神经腹综合征，包括神经精神症状和神经退行性变化。两种主要假说解释了神经系统功能障碍的发病机制：（a）肝脏和大脑中积累的 5-氨基酮戊酸的自动氧化产生的 ROS；（b）肝脏血红素缺乏和在神经组织中产生氧化状态，这是神经退行性过程的一个组成部分。
方法
我们回顾了在阿根廷 CIPYP 从临床、生化和分子水平研究的急性间歇性卟啉症（AIP）和杂色卟啉症（VP）家族的结果。还评估了 AHP 患者和对照组中卟啉症发作与氧化应激之间的关系，以确定神经功能障碍的标志物。
结果
我们研究了 116 个 AIP 家族和 30 个 VP 家族，分别有 609 人和 132 人。研究了基因型/表型关系。在 20 名健康志愿者、22 名 AIP 和 12 名 VP 个体中测量了氧化应激参数和血浆同型半胱氨酸水平。
结论
分析组之间的氧化应激参数和同型半胱氨酸水平没有显著差异。
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