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      CME : Akut-intermittierende Porphyrie: Wann daran denken? Was abklären? Wie therapieren?


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          Zusammenfassung. Unter dem Begriff «Porphyrie» wird eine Gruppe von acht Stoffwechselerkrankungen zusammengefasst, welche in Folge einer gestörten Hämbiosynthese entstehen. Die Einteilung der verschiedenen Formen erfolgt anhand der klinischen und biochemischen Merkmale. Dieser Artikel fokussiert auf die akuten (hepatischen) Porphyrien (AHP), die durch eine ähnliche Pathophysiologie und klinische Symptomatik gekennzeichnet sind. Typisch sind akute, das autonome Nervensystem betreffende Symptome; starke, kolikartige, teilweise ausstrahlende Oberbauchschmerzen, Übelkeit, Erbrechen, Hypertonie, Tachykardie, Obstipation und Hyponatriämie. Die Diagnose einer AHP wird aufgrund einer mindestens fünffach erhöhten Ausscheidung von Porphobilinogen (PBG) im Urin gestellt. Therapie der Wahl ist die Zufuhr von Kohlenhydraten, die Gabe von humanem Häm, die Elimination und Vermeidung von schubauslösenden Triggerfaktoren und eine begleitende symptomorientierte Therapie, im Besonderen eine suffiziente Analgesie.

          Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?

          Abstract. Porphyrias comprise a group of eight inherited metabolic disorders of heme biosynthesis. The classification is based on the clinical presentation. The main focus of this article is put on acute (hepatic) porphyria (AHP). AHP presents with acute attacks of severe upper abdominal pain irradiating into the back and the major muscles of the extremities. Nausea, vomiting, tachycardia, hypertension, constipation and hyponatremia are additional symptoms due to neurovisceral damage by toxic metabolites. Urine analysis for the presence of fivefold elevated porphobilinogen is the diagnostic hallmark of an AHP attack. Therapeutic options include the combination of nutritional supplementation with carbohydrates, avoidance of disease-associated medication, administration of haem and symptomatic treatment, in particular analgestic treatment.

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          Porphyria in Switzerland, 15 years experience.

          The porphyrias, a group of seven metabolic disorders in the haem biosynthesis, can be classified into acute and non-acute porphyrias. A common symptom of acute porphyrias is severe acute abdominal pain, whereas cutaneous photosensitivity can occur in both acute and non-acute porphyrias. All porphyrias, except for sporadic porphyria cutanea tarda (sPCT), are hereditary disorders caused by mutations in the respective genes. We present porphyria cases documented in our porphyria centre during the past 15 years. Diagnosis was based on clinical symptoms and biochemical analyses. Mutation analysis was performed in patients/families with a confirmed hereditary porphyria. As the porphyria specialist centre of Switzerland, we perform the specialized analyses required for the diagnosis of all types of porphyrias, and give advice to patients, physicians and other laboratories. We therefore estimated that our data cover 80-90% of all diagnosed Swiss cases. A total of 217 patients from 170 families were diagnosed including, 111 acute intermittent porphyria, 45 erythropoietic protoporphyria, 30 variegate porphyria, 21 sPCT, five congenital erythropoietic porphyria, four hereditary coproporphyria and one hepatoerythropoietic porphyria patient. Systematic monitoring of the patients would allow early detection of the potential life-threatening complications such as hepatocellular carcinoma and renal insufficiency in acute porphyrias, and liver failure in EPP. Seventy-five percent of all families underwent genetic testing. Identification of pre-symptomatic mutation carriers so that these individuals and their physicians can be consulted with safety on drug use and other preventive measures, is important in managing acute porphyrias. The unique phenomenon of founder mutations in the Swiss population is also discussed.
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                Author and article information

                Hogrefe AG, Bern
                : 107
                : 3
                : 117-124
                [ 1 ]Klinik für Innere Medizin, Departement Innere Medizin und Spezialdisziplinen, Stadtspital Triemli Zürich
                [ 2 ]Institut für Labormedizin, Departement Transversale Disziplinen, Stadtspital Triemli Zürich
                [ 3 ]Porphyrie-Sprechstunde, Ambulantes Perioperatives Zentrum (APZ), Stadtspital Triemli Zürich
                Author notes
                Jon-Duri Senn, Klinik für Innere Medizin, Departement Innere Medizin und Spezialdisziplinen, Stadtspital Triemli Zürich, Birmensdorferstrasse 497, 8063 Zürich, E-Mail JonDuri.Senn@ 123456triemli.zuerich.ch
                Self URI (journal-page): https://econtent.hogrefe.com/loi/prx
                Continuing Medical Education Continuing Medical Education

                General medicine,Medicine,Cardiovascular Medicine,Radiology & Imaging,Respiratory medicine,Pharmacology & Pharmaceutical medicine
                heme biosynthesis,akut-intermittierende Porphyrie,Ausscheidung von Porphobilinogen,Hämbiosynthese,humanes Häm,Porphyrie,human hemin,urinary porphobilinogen,Porphyria,acute (hepatic) porphyria


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