Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000007932 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Recovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report.
Eur Rev Med Pharmacol Sci
April 2024
Department of Biomedical, Metabolic and Neural Science, Neurology Unit, Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy.
Background: We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated with givosiran, a small-interfering RNA that drastically decreases delta-aminolevulinic acid production and reduces porphyric attacks' recurrence.
Case Report: A 12-year-old male patient with refractory acute intermittent porphyria and severe porphyric neuropathy was followed prospectively for 12 months after givosiran initiation (subcutaneous, 2.5 mg/kg monthly).
Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrum.
JIMD Rep
March 2023
Department of Internal Medicine, Section on Gastroenterology and Hepatology Wake Forest University School of Medicine Winston-Salem North Carolina USA.
A 47-year-old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5-aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran. She has had normal liver tests, mildly decreased renal function, and sustained normal urinary ALA, PBG, and porphyrins with no rebound in her laboratory test results throughout treatment. She continues to tolerate monthly givosiran injections with no adverse effects, but she still experiences what she believes are acute porphyric attacks every 1-2 months.
View Article and Find Full Text PDFPathogenesis of acute encephalopathy in acute hepatic porphyria.
J Neurol
May 2023
Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland.
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.
View Article and Find Full Text PDFPorphyria: a case report.
J Med Case Rep
December 2022
Department of Clinical Biochemistry, Institute of Medicine, Maharajgunj Medical Campus, Kathmandu, Nepal.
Background: Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group. As its incidence is quite uncommon, conjectures about porphyria diagnosis are often duped into a diagnostic conundrum.
View Article and Find Full Text PDFReversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature.
Eur J Case Rep Intern Med
September 2022
Internal Medicine Unit, Pellegrin Teaching Hospital, Bordeaux, France.
Unlabelled: The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central nervous system dysfunction. In rare cases, patients with acute intermittent porphyria have presented with cerebral infarction, suggested to be due to vasospasm in cerebral arteries.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!