Department of Neurology, Consultative and Diagnostic Center with Polyclinics, St. Petersburg, Russia.
Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland.
J Neurol. 2023 May;270(5):2613-2630. doi: 10.1007/s00415-023-11586-5. Epub 2023 Feb 9.
Acute encephalopathy (AE) can be a manifestation of an acute porphyric attack. Clinical data were studied in 32 patients during AE with or without polyneuropathy (PNP) together with 12 subjects with PNP but no AE, and 17 with dysautonomia solely. Brain neuroimaging was done in 20 attacks during AE, and PEPT2 polymorphisms were studied in 56 subjects, 24 with AE. AE manifested as a triad of seizures, confusion and/or blurred vision. Symptoms lasting 1-5 days manifested 3-19 days from the onset of an attack. 55% of these patients had acute PNP independent of AE. Posterior reversible encephalopathy syndrome (PRES) was detected in 42% of the attacks. These patients were severely affected and hyponatremic (88%). Reversible segmental vasoconstriction was rare. There was no statistical difference in hypertension or urinary excretion of porphyrin precursors among the patients with or without AE. In 94% of the attacks with AE, liver transaminases were elevated significantly (1.5 to fivefold, P = 0.034) compared to a normal level in 87% of the attacks with dysautonomia, or in 25% of patients with PNP solely. PEPT22/2 haplotype was less common among patients with AE than without (8.3% vs. 25.8%, P = 0.159) and in patients with PNP than without (9.5% vs. 22.9%, P = 0.207), suggesting a minor role, if any, in acute neurotoxicity. In contrast, PEPT22/2 haplotype was commoner among patients with chronic kidney disease (P = 0.192). Acute endothelial dysfunction in porphyric encephalopathy could be explained by a combination of abrupt hypertension, SIADH, and acute metabolic and inflammatory factors of hepatic origin.
急性脑病（AE）可能是急性卟啉症发作的表现。研究了 32 例伴有或不伴有多发性神经病（PNP）的 AE 患者、12 例无 AE 但有 PNP 的患者和 17 例仅有自主神经功能障碍的患者的临床资料。对 20 例 AE 发作期间进行了脑部神经影像学检查，并在 56 例患者中研究了 PEPT2 多态性，其中 24 例患有 AE。AE 表现为癫痫发作、意识混乱和/或视力模糊三联征。症状持续 1-5 天，从发作开始后 3-19 天出现。这些患者中有 55%患有急性 PNP，与 AE 无关。42%的发作检测到后部可逆性脑病综合征（PRES）。这些患者病情严重且低钠血症（88%）。可逆转的节段性血管收缩很少见。AE 患者和非 AE 患者的高血压或卟啉前体尿排泄量无统计学差异。在 94%的 AE 发作中，肝转氨酶显著升高（1.5 至 5 倍，P=0.034），而在 87%的自主神经功能障碍发作中或在 25%的仅有 PNP 的患者中，肝转氨酶正常。AE 患者中 PEPT22/2 单倍型较无 AE 患者（8.3%比 25.8%，P=0.159）和无 PNP 患者（9.5%比 22.9%，P=0.207）少见，提示其在急性神经毒性中的作用较小，如果有的话。相比之下，PEPT22/2 单倍型在慢性肾病患者中更为常见（P=0.192）。卟啉性脑病中的急性内皮功能障碍可能是由突发性高血压、SIADH 以及肝源性急性代谢和炎症因素共同作用引起的。
