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Pathogenesis of acute encephalopathy in acute hepatic porphyria

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,...

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Autores principales: Pischik, Elena, Baumann, Katrin, Karpenko, Alla, Kauppinen, Raili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129990/
https://www.ncbi.nlm.nih.gov/pubmed/36757574
http://dx.doi.org/10.1007/s00415-023-11586-5
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author Pischik, Elena
Baumann, Katrin
Karpenko, Alla
Kauppinen, Raili
author_facet Pischik, Elena
Baumann, Katrin
Karpenko, Alla
Kauppinen, Raili
author_sort Pischik, Elena
collection PubMed
description 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. PEPT2*2/2 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, PEPT2*2/2 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.
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spelling pubmed-101299902023-04-27 Pathogenesis of acute encephalopathy in acute hepatic porphyria Pischik, Elena Baumann, Katrin Karpenko, Alla Kauppinen, Raili J Neurol Original Communication 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. PEPT2*2/2 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, PEPT2*2/2 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. Springer Berlin Heidelberg 2023-02-09 2023 /pmc/articles/PMC10129990/ /pubmed/36757574 http://dx.doi.org/10.1007/s00415-023-11586-5 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Communication
Pischik, Elena
Baumann, Katrin
Karpenko, Alla
Kauppinen, Raili
Pathogenesis of acute encephalopathy in acute hepatic porphyria
title Pathogenesis of acute encephalopathy in acute hepatic porphyria
title_full Pathogenesis of acute encephalopathy in acute hepatic porphyria
title_fullStr Pathogenesis of acute encephalopathy in acute hepatic porphyria
title_full_unstemmed Pathogenesis of acute encephalopathy in acute hepatic porphyria
title_short Pathogenesis of acute encephalopathy in acute hepatic porphyria
title_sort pathogenesis of acute encephalopathy in acute hepatic porphyria
topic Original Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129990/
https://www.ncbi.nlm.nih.gov/pubmed/36757574
http://dx.doi.org/10.1007/s00415-023-11586-5
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