Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12612
Abstract: BACKGROUND Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and in clinical practice are ambiguous, which can lead to confusion in the way… read more here.
Keywords: definitions acute; consensus; key terms; porphyria ... See more keywords
Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction.
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DOI: 10.1016/j.ymgme.2019.10.011
Abstract: BACKGROUND AND AIM An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has been described in numerous case reports. We aimed to systematically review clinical-radiological features and… read more here.
Keywords: encephalopathy syndrome; porphyric attacks; central nervous; posterior reversible ... See more keywords
Targeting porphyria
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DOI: 10.1038/s41591-020-0987-0
Abstract: A phase 3 trial of givosiran, an RNA-interference therapy, for acute intermittent porphyria resulted in a reduced rate of porphyria attacks. Acute hepatic porphyria is a set of rare diseases in which porphyrins build up,… read more here.
Keywords: medicine; targeting porphyria; porphyria;
Between a rock and a hard place: management of systemic lupus erythematosus and porphyria cutanea tarda
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DOI: 10.1080/09546634.2022.2060925
Abstract: Abstract Porphyria cutanea tarda (PCT), the most common porphyria, is a rare photodermatosis characterized by fragile, hemorrhagic bullae and erosions with associated milia, hyperpigmentation, and hypertrichosis. SLE is a systemic connective tissue disease with approximately… read more here.
Keywords: management; porphyria cutanea; cutanea tarda; porphyria ... See more keywords
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria
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DOI: 10.1089/hum.2017.056
Abstract: Porphobilinogen deaminase (PBGD) gene therapy represents a promising therapeutic option for acute intermittent porphyria (AIP) patients suffering recurrent acute attacks. A first-in-human Phase I clinical trial confirmed the safety and tolerability of adeno-associated virus (AAV)-AAT-PBGD… read more here.
Keywords: acute intermittent; gene therapy; porphyria; promoter ... See more keywords
Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1,244 individuals.
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DOI: 10.1111/joim.13463
Abstract: BACKGROUND The acute hepatic porphyrias (AHP) are associated with a risk of primary liver cancer (PLC), but risk estimates are unclear, and what AHP characteristics that predict PLC risk are unknown. In this register-based, matched… read more here.
Keywords: risk; study; porphyria; plc ... See more keywords
Givosiran to treat acute porphyria.
Sign Up to like & getrecommendations! Published in 2021 at "Drugs of today"
DOI: 10.1358/dot.2021.57.1.3230207
Abstract: Porphyrias are a family of rare diseases chiefly due to inborn errors of heme biosynthesis. The porphyrias are generally characterized either by the main site of overproduction of heme precursors (hepatic or erythropoietic) or the… read more here.
Keywords: treat acute; givosiran treat; acute porphyria; treatment ... See more keywords
High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach
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DOI: 10.3390/biomedicines9030255
Abstract: Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production of neurotoxic heme precursors. First-line therapy is based on carbohydrate loading. However, altered glucose homeostasis could affect its efficacy. Our… read more here.
Keywords: insulin; liver targeted; targeted insulin; prevalence insulin ... See more keywords