Get a printable copy (PDF file) of the complete article (K), or click on a page Scholar]; Lithner F. Intravenös hematinbehandling av akut intermittent porfyri. Socialstyrelsen > Ovanliga diagnoser > Akut intermittent porfyri: " Sjukdomsyttringarna vid akut intermittent porfyri är av två slag, dels de akuta. Acute intermittent porphyria (AIP) is the most common of the acute porphyrias in Sweden. Acute attacks of . melatonin mot kramperna då de flesta anti-kramp läkemedel kan ge porfyri attacker. Socker används som behandling vid akut attack.
|Language:||English, Spanish, French|
|Distribution:||Free* [*Sign up for free]|
Akut intermittent porfyri (AIP) är den vanligaste porfyrin i Sverige. AIP attacker kan vara C. Women with acute intermittent porphyria have a defect in 5α-. Request PDF on ResearchGate | On 1, , C Andersson and others published [Acute intermittent porphyria. Risk of Akut intermittent porfyri. Risk för . 2. okt PDF | Akut intermitterende porfyri (AIP) og adrenokorti-kalt karcinom er to Smoking and recurrent attacks of acute intermittent prophyria.
Journal of Inherited Metabolic Disease. Annals of Clinical Biochemistry. September The Journal of Emergency Medicine. Chinese Medical Journal.
Clinics and Research in Hepatology and Gastroenterology. Montgomery; Bloomer, Joseph R.
The American Journal of Medicine. April Clinical Gastroenterology.
Human Molecular Genetics. Clinical Chemistry.
Journal of Clinical Chemistry and Clinical Biochemistry. Factors that can precipitate all subtypes include excess hepatic iron, ethanol use, hepatitis C, HIV infection, estrogen administration, and induction of cytochrome P enzymes, as occurs in smokers. All subtypes respond to repeated phlebotomy or low-dose chloroquine or hydroxychloroquine.
Hepatoerythropoietic porphyria HEP is an autosomal recessive disease resulting from the marked systemic deficiency of UROD, and clinically resembles CEP with hemolysis, anemia, increased erythrocyte porphyrins, and cutaneous photosensitivity, usually from birth. Hereditary coproporphyria HCP is an autosomal dominant hepatic porphyria resulting from the half-normal activity of coproporphyrinogen oxidase CPO.
The clinical features, precipitating factors, and treatment are essentially identical to those of AIP. Occasional skin photosensitivity occurs. Variegate porphyria VP is an autosomal dominant hepatic porphyria due to the half-normal activity of protoporphyrinogen oxidase PPO.
The clinical features, precipitating factors, and treatment are similar to those of AIP. Photosensitivity is more common than in HCP. The skin lesions are readily confused with PCT and do not respond to phlebotomy or chloroquine. A founder mutation is responsible for its high prevalence in South Africa.
Erythropoietic protoporphyria EPP is an autosomal dominant disorder due to the decreased activity of ferrochelatase. Hepatocellular carcinoma without cirrhosis: The cause of hyponatremia is not clear; both SIADH syndrome of inappropriate antidiuretic intermitgant release and renal salt wasting have been proposed as mechanisms.
Porphyrias are caused by mutations in genes that encode enzymes in heme synthesis. Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis.
Attacks may be complicated by neurologic findings mental changes, convulsions, and peripheral neuropathy that may progress to respiratory paralysisand hyponatremia. Assure that adequate nutrition is provided by a normal balanced diet. There are frequently secondary causes of dyslipidaemias, often reversible.
No recent formal study has been performed, but informal feedback from experienced clinicians at international porphyria meetings indicates that few patients have benefited from this treatment. Acute intermittent porphyria can be precipitated by conditions that increase hepatic heme synthesis such as medications, stress, starvation, severe illness, infection, surgery, smoking, and alcohol.
Treatment of acute akit.
Penetrance The penetrance for clinical manifestations of an HMBS pathogenic variant is not accurately known. The main exception is Sweden where the prevalence of AIP is high 1 per people in northern Sweden due to a founder effect.
Specific treatment should be started as soon as the diagnosis is established unless the attack is mild and clearly resolving.