Information for physicians The information on this page is primarily intended for use by healthcare specialists and contains technical terms.
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Drugs and porphyria
The information on these web pages provides guidance based on the available evidence. However this evidence is not always complete, which may lead to some degree of uncertainty. It must be made clear that the prescription of drugs to a patient with acute porphyria is entirely at the responsibility of the physician in charge. European […]
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LABORATORY DIAGNOSIS
LABORATORY DIAGNOSIS ACUTE PORPHYRIAS I. DIAGNOSIS OF THE ACUTE ATTACK Background information Acute neurovisceral attacks are accompanied by increased urinary excretion of PBG and, to a lesser extent, ALA, except in the exceedingly rare condition, ADP (more about porphyrias), where PBG excretion is normal. Examination of urine for excess PBG is, therefore, the essential […]
The diagnosis of the acute attack should be made by measuring quantitative PBG before starting specific treatment for porphyria (eg with human hemin) (more about diagnosis). For patients who have previously had an unequivocally diagnosed attack of acute porphyria, it may be necessary to initiate specific treatment before the results of the laboratory investigation are […]
PORPHYRIA:INHERITANCE AND MOLECULAR GENETICS All the porphyrias, except PCT, are inherited in mendelian patterns. Enzyme deficiency (close to half-normal) is present in all who inherit the gene for an autosomal dominant porphyria (AIP, HCP, VP, EPP) but clinical penetrance is low (about 10% within families; about 2% from studies of the general population). Rare homozygous […]
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When treating pain in this group one is dealing with patients with high disease activity and therefore at maximum risk of inadvertently worsening an acute attack. The principle therefore is: to choose a drug which is definitely known to be safe as demonstrated by repeated use in this group of patients and a […]
Inhalt 1. Was ist eine congenitale erythropoetische Porphyrie? 2. Wie häufig ist CED? 3. Was sind die Merkmale der CEP? 4. Wie wird die CEP vererbt? 5. Wie wird CEP diagnostiziert 6. Kann CEP während der Schwangerschaft diagnostiziert werden? 7. Gibt es eine Heilung der CEP? 8. Welche anderen Behandlungen sind für CEP verfügbar? 9. […]
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AKUTE PORPHYRIEN
AKUTE PORPHYRIEN Information für Personen mit akut-intermittierender Porphyrie, Porphyria variegata oder hereditärer Koproporphyrie und deren Familienangehörige. TABLE DES MATIERES 1. WAS IST EINE AKUTE PORPHYRIE ? 2. WAS IST EINE AKUTE PORPHYRIE-ATTACKE ? 3. WIE WIRD EINE AKUTE PORPHYRIE VERERBT ? 4. WELCHE RISIKEN FÜR PORPHYRIE-SYMPTOME BESTEHEN FÜR PERSONEN, DIE GENTRÄGER EINER AKUTEN PORPHYRIE SIND […]
CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP) Contents 1. What is Congenital Erythropoietic Porphyria? 2. How common is CEP? 3. What are the features of CEP? 4. How is CEP inherited? 5. How is CEP diagnosed? 6. Can CEP be diagnosed in pregnancy? 7. Is there a cure for CEP? 8. What other treatments are available for CEP? […]