ReviewMolecular genetics and metabolism2019
Acute hepatic porphyrias: Current diagnosis & management.
Review in Molecular genetics and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 83 citations in OpenAlex.
- Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.Orphanet journal of rare diseases · 2024Trial
- Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.Orphanet journal of rare diseases · 2022Trial
- Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis.Molecular genetics and metabolism reports · 2026Article
- Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.Orphanet journal of rare diseases · 2026Article
- A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.Frontiers in endocrinology · 2026Article
- Article
- siRNA Therapeutics for the Treatment of Hereditary Diseases and Other Conditions: A Review.International journal of molecular sciences · 2025Review
- Liver transplantation and primary liver cancer in porphyria.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.Molecular genetics and metabolism reports · 2025Article
- An easily overlooked disease in the early stages: acute intermittent porphyria.BMC neurology · 2025Article
- Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.Internal medicine (Tokyo, Japan) · 2024Article
- The Growing Class of Novel RNAi Therapeutics.Molecular pharmacology · 2024Review
- Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.Pharmacological reviews · 2023Review
- Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.Orphanet journal of rare diseases · 2023Article
- A high urinary urobilinogen/serum total bilirubin ratio indicates acute hepatic porphyria in patients with abdominal pain.Scientific reports · 2023Article
- Article
- Progress on RNA-based therapeutics for genetic diseases.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Exploring the Possibility of RNA in Diverse Biological Processes.International journal of molecular sciences · 2023Article
- Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms.Digestive diseases and sciences · 2023Article
- [Abdominal pain with neuropsychiatric symptoms and ventilatory failure as a presentation of acute porphyria].Revista medica del Instituto Mexicano del Seguro Social · 2023Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme biosynthetic pathway. The accumulation of pathway intermediates that occur most notably when these diseases are active is the basis for screening and establishing a biochemical diagnosis of these rare disorders. Measurement of enzyme activities and especially DNA testing also are important for diagnosis. Suspicion of the diagnosis and specific testing, particularly measurement of urinary porphobilinogen, are often delayed because the symptoms are nonspecific, even when severe. Urinary porphyrins are also measured, but their elevation is much less specific. If porphobilinogen is elevated, second line testing will establish the type of acute porphyria. DNA testing identifies the familial mutation and enables screening of family members. Management includes removal of triggering factors whenever possible. Intravenous hemin is the most effective treatment for acute attacks. Carbohydrate loading is sometimes used for mild attacks. Cyclic attacks, if frequent, can be prevented by a GnRH analogue. Frequent noncyclic attacks are sometime preventable by scheduled (e.g. weekly) hemin infusions. Long term complications may include chronic pain, renal impairment and liver cancer. Other treatments, including RNA interference, are under development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.