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James P Kushner - One of the best experts on this subject based on the ideXlab platform.
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cytochrome p450 induction uroPorphyrinogen decarboxylase depression Porphyrin accumulation and excretion and gender influence in a 3 week rat model of porphyria cutanea tarda
Toxicology and Applied Pharmacology, 1997Co-Authors: Michael R Franklin, John D Phillips, James P KushnerAbstract:An experimental model of porphyria cutanea tarda, consisting of depressed hepatic uroPorphyrinogen decarboxylase (URO-D) activity and accumulation of highly carboxylated Porphyrins in the liver, was produced in 3 weeks in Fischer 344 rats. A single administration of a polychlorinated biphenyl mixture (Aroclor 1254) to iron-loaded female rats maintained continuously on δ-aminolevulinic acid supplemented drinking water produced the porphyric state. Without iron loading, URO-D activity appeared slightly less inhibited (33% of normal vs 23% of normal) but Porphyrin accumulation was dramatically less (70 vs 605 μg Porphyrin/g liver). Similar treatment in male rats produced URO-D activities of 54 and 70% of normal with and without iron loading, respectively, and Porphyrin concentrations of 76 and 17 μg/g. When hexachlorobenzene was substituted for Aroclor 1254 treatment in female rats, URO-D activity was 61 and 69% of normal (with and without iron loading, respectively) and liver Porphyrin concentrations were 96 and 25 μg/g, respectively. Hexachlorobenzene did not produce significant porphyric effects in male rats. Aroclor 1254 induced CYP1A to a greater extent in females than in males and to a greater extent than hexachlorobenzene, which showed a greater propensity to induce CYP2B. Overall correlation between URO-D activity depression and Porphyrin accumulation was highest when fitted to an exponential curve, indicating the importance of the extreme of the depression URO-D activity in evoking experimental porphyria cutanea tarda.
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laboratory diagnosis of the porphyrias
The New England Journal of Medicine, 1991Co-Authors: James P KushnerAbstract:The term "porphyria" refers to a group of diseases characterized by the excessive production and excretion of Porphyrins, Porphyrin precursors, or both. Each of the diseases is due to a specific en...
Manfred O. Doss - One of the best experts on this subject based on the ideXlab platform.
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Clinical Guide and Update on Porphyrias
Gastroenterology, 2019Co-Authors: Ulrich Stölzel, Manfred O. Doss, Detlef SchuppanAbstract:Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of Porphyrin precursors, producing often serious abdominal, psychiatric, neurologic, or cardiovascular symptoms. Patients with variegate porphyria and hereditary coproporphyria can present with skin photosensitivity. Diagnosis relies on measurement of increased urinary 5-aminolevulinic acid (in patients with aminolevulinic acid dehydratase deficient porphyria) or increased 5-aminolevulinic acid and porphobilinogen (in patients with other acute porphyrias). Management of attacks requires intensive care, strict avoidance of Porphyrinogenic drugs and other precipitating factors, caloric support, and often heme therapy. The non-acute porphyrias are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare congenital erythropoietic porphyria. They lead to the accumulation of Porphyrins that cause skin photosensitivity and occasionally severe liver damage. Secondary elevated urinary or blood Porphyrins can occur in patients without porphyria, for example, in liver diseases, or iron deficiency. Increases in Porphyrin precursors and Porphyrins are also found in patients with lead intoxication. Patients with porphyria cutanea tarda benefit from iron depletion, hydroxychloroquine therapy, and, if applicable, elimination of the hepatitis C virus. An α-melanocyte–stimulating hormone analogue can reduce sunlight sensitivity in patients with erythropoietic protoporphyria or X-linked protoporphyria. Strategies to address dysregulated or dysfunctional steps within the heme biosynthetic pathway are in development.
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Heme Synthesis Defects and Porphyrias
Physician's Guide to the Diagnosis Treatment and Follow-Up of Inherited Metabolic Diseases, 2014Co-Authors: Ulrich Stölzel, Thomas Stauch, Manfred O. DossAbstract:Porphyrias are metabolic disorders of the heme biosynthesis. Clinically, they can be differentiated into acute and non-acute porphyrias. The symptomatic phase of acute hepatic porphyrias is characterized by overproduction of neurotoxic Porphyrin precursors and Porphyrins. Acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and Doss porphyria (ALSDP) belong to this group of metabolic disorders. The clinical presentation of the acute hepatic porphyria syndrome includes abdominal, psychiatric, neurological, and cardiovascular symptoms. The diagnosis is based on an at least tenfold increased urinary excretion of porphobilinogen (apart from Doss porphyria and lead intoxication). Besides symptomatic therapy with non-Porphyrinogenic drugs, electrolyte compensation, and intensive monitoring, intravenous administration of glucose and heme arginate is established for treatment. Among the non-acute types like porphyria cutanea tarda, erythropoietic protoporphyria, and congenital erythropoietic porphyria, the accumulated Porphyrins cause photosensitivity of the skin and in some cases severe liver damage. X-linked protoporphyria (XLPP) represents a new type of protoporphyria, with 5-aminolevulinic acid synthase 2 gain of function leading to high concentrations of free protoPorphyrin IX. The location of the deficient enzyme within the heme biosynthetic pathway determines the pattern of the accumulated Porphyrins. The cDNA of all enzymes of heme biosynthesis have been characterized, and mutations responsible for any of the porphyrias have been described. Besides light protection, there are different therapies depending on the type of non-acute porphyria. Ultimately, liver transplantation may be considered in therapy-resistant cases of acute hepatic porphyrias and bone marrow transplantation in severe cases of erythropoietic porphyrias.
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Porphyrien
Der Internist, 2010Co-Authors: Ulrich Stölzel, Thomas Stauch, Manfred O. DossAbstract:Porphyrien sind Stoffwechselerkrankungen, denen eine Störung der Hämbiosynthese zugrunde liegt. Klinisch wird zwischen akuten und nicht-akuten Porphyrien differenziert. Bei symptomatischen akuten hepatischen Porphyrien werden vermehrt Porphyrinvorläufer, denen neurotoxische Eigenschaften zugeschrieben werden, und Porphyrine synthetisiert. In diese Gruppe gehören die akute intermittierende Porphyrie, die Porphyria variegata, die hereditäre Koproporphyrie und die Doss-Porphyrie. Klinisch entwickelt sich ein akutes Syndrom mit abdominellen, psychiatrischen, neurologischen und kardiovaskulären Symptomen. Eine mehr als 10-fache Erhöhung von Porphobilinogen oberhalb der Norm im Spontanurin ist (außer bei Doss-Porphyrie) für die Diagnose ausschlaggebend. Neben der symptomatischen Therapie mit nicht Porphyrinogenen Medikamenten, Elektrolytausgleich und intensiver Überwachung sind Glukose und Hämarginat intravenös zur Behandlung etabliert. Bei den nicht-akuten Formen – Porphyria cutanea tarda, erythropoetische und X-chromosomal-dominante Protoporphyrie sowie kongenitale erythropoetische Porphyrie – führen akkumulierte Porphyrine zur Lichtempfindlichkeit der Haut (Photodermatose) und schweren Leberschäden. Der jeweilige Enzymdefekt prägt aufgrund seiner Position in der Hämbiosynthesekette das diagnostisch wegweisende Muster akkumulierter Porphyrine. Sämtliche nicht-akuten Porphyrien erzwingen die Notwendigkeit eines effektiven Lichtschutzes der exponierten Hautareale. Daneben gibt es, je nach Störung, weitere spezifische Therapieoptionen. Eine definitive Heilmethode stellt bei den therapierefraktären akuten hepatischen Porphyrien als ultima ratio die Lebertransplantation dar, während schwere Verlaufsformen der erythropoetischen Porphyrien durch eine allogene Knochenmarkstransplantation geheilt werden können. Porphyrias are metabolic disorders of the heme biosynthesis. Clinically, they can be differentiated into acute and non-acute porphyrias. The symptomatic phase of acute hepatic porphyrias is characterized by overproduction of neurotoxic Porphyrin precursors and Porphyrins. Acute intermittent porphyria, Variegate porphyria, Hereditary coproporphyria and Doss porphyria belong to this group of metabolic disorders. The clinical presentation of the acute hepatic porphyria syndrome includes abdominal, psychiatric, neurological and cardiovascular symptoms. The diagnosis is based on a tenfold increased urinary excretion of porphobilinogen (apart from Doss porphyria). Besides symptomatic therapy with non-Porphyrinogenic drugs, electrolyte compensation and intensive monitoring, intravenous administration of glucose and heme arginate is established for treatment. Among the non-acute types like Porphyria cutanea tarda, Erythropoietic protoporphyria and Congenital erythropoietic porphyria, the accumulated Porphyrins cause photosensitivity of the skin up to severe liver damage. The location of the deficient enzyme within the heme biosynthesic pathway determines the pattern of the accumulated Porphyrins. Besides light protection, there are different therapies depending on the type of non-acute porphyria. Ultimately, liver transplantation may be considered in therapy-resistant cases of acute hepatic porphyrias and bone marrow transplantation in severe cases of erythropoietic porphyrias.
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Hepatische Porphyrien und Alkohol
Medizinische Klinik, 1999Co-Authors: Manfred O. Doss, Alexandra Kühnel, Ulrich Gross, Ina SiegAbstract:□ Alkohol wirkt Porphyrinogen und kann zu Porphyrinstoffwechselstörungen bei Gesunden sowie zur biochemischen und klinischen Manifestation akuter und chronischer hepatischer Porphyrien führen, vor allem der akuten intermittierenden Porphyrie und der Porphyria cutanea tarda. Nach exzessivem Alkoholkonsum tritt beim Menschen eine passagere, klinisch asymptomatische, sekundäre hepatische KoproPorphyrinurie auf, die bei Alkoholleberschäden persistieren kann. Das Alkoholleber-Porphyrinurie-Syndrom rangiert gegenwärtig an erster Stelle der sekundären hepatischen Porphyrinstoffwechselstörungen. Bei Personen mit einem genetischen UroPorphyrinogendecarboxylase-Mangel vermag Alkohol eine asymptomatische KoproPorphyrinurie in eine chronische hepatische Porphyrie bzw. Porphyria cutanea tarda zu transformieren. □ Aus experimentellen und klinischen Untersuchungen kann geschlossen werden, daß Alkohol die Enzyme δ-Aminolävulinsäuredehydratase (Synonym: Porphobilinogensynthase), UroPorphyrinogendecarboxylase und KoproPorphyrinogenoxidase hemmt und die δ-Aminolävulinsäuresynthase in der Leber induziert. Die Alkoholabstinenz ist eine wichtige therapeutische und prophylaktische Maßnahme bei allen hepatischen Porphyrien. □ Für die klinische Praxis folgt, daß bei chronischem Alkoholkonsum, bei Fettleber, Alkoholhepatitis und Leberzirrhose Porphyrinuntersuchungen im Urin erfolgen sollten, um eine hepatische Porphyrie in der Latenzphase frühzeitig zu erfassen. Bei abdominalen und kutanen Symptomen im klinischen Kontext von Alkoholkonsum muß eine hepatische Porphyrie differentialdiagnostisch ausgeschlossen werden. □ Alcohol has an Porphyrinogenic action and can cause a disturbance of Porphyrin metabolism in healthy people as well as lead to a biochemical and clinical manifestation of acute and chronic hepatic porphyrias, especially acute intermittent porphyria and porphyria cutanea tarda. After excessive consumption of alcohol a temporary, clinically asymptomatic secondary hepatic coproPorphyrinuria in man can be observed, which can become persistant in cases of alcohol-induced liver damage. Nowadays alcohol-liver-Porphyrinuria syndrome is the first to be mentioned in secondary hepatic disturbances of Porphyrin metabolism. In people with a genetic lack of uroPorphyrinogen-decarboxylase alcohol is able to transform an asymptomatic coproPorphyrinuria into a chronic hepatic porphyria or porphyria cutanea tarda. □ From experimental and clinical studies the conclusion can be drawn that alcohol inhibites the enzymes δ-aminolevulinic-acid-dehydratase (synonym: porphobilinogen-synthase), uroPorphyrinogen-decarboxylase and coproPorphyrinogen-oxidase and induces δ-aminolevulinic-acid-synthase in the liver. Abstinence of alcohol is a therapeutically and prophylactically important measurement in all types of hepatic porphyrias. □ For clinical experience follows that in cases with chronic consumption of alcohol, fatty liver, alcohol induced hepatitis and liver cirrhosis Porphyrin studies in urine should be made to notice a hepatic porphyria in the latent phase very early. When dealing with abdominal and cutaneous symptoms in clinical context with consumption of alcohol one has to exclude hepatic porphyria differential diagnostically.
Ulrich Stölzel - One of the best experts on this subject based on the ideXlab platform.
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Clinical Guide and Update on Porphyrias
Gastroenterology, 2019Co-Authors: Ulrich Stölzel, Manfred O. Doss, Detlef SchuppanAbstract:Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficient porphyria) manifest in attacks and are characterized by overproduction of Porphyrin precursors, producing often serious abdominal, psychiatric, neurologic, or cardiovascular symptoms. Patients with variegate porphyria and hereditary coproporphyria can present with skin photosensitivity. Diagnosis relies on measurement of increased urinary 5-aminolevulinic acid (in patients with aminolevulinic acid dehydratase deficient porphyria) or increased 5-aminolevulinic acid and porphobilinogen (in patients with other acute porphyrias). Management of attacks requires intensive care, strict avoidance of Porphyrinogenic drugs and other precipitating factors, caloric support, and often heme therapy. The non-acute porphyrias are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare congenital erythropoietic porphyria. They lead to the accumulation of Porphyrins that cause skin photosensitivity and occasionally severe liver damage. Secondary elevated urinary or blood Porphyrins can occur in patients without porphyria, for example, in liver diseases, or iron deficiency. Increases in Porphyrin precursors and Porphyrins are also found in patients with lead intoxication. Patients with porphyria cutanea tarda benefit from iron depletion, hydroxychloroquine therapy, and, if applicable, elimination of the hepatitis C virus. An α-melanocyte–stimulating hormone analogue can reduce sunlight sensitivity in patients with erythropoietic protoporphyria or X-linked protoporphyria. Strategies to address dysregulated or dysfunctional steps within the heme biosynthetic pathway are in development.
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Porphyrien – was ist gesichert?
Der Internist, 2018Co-Authors: Ulrich Stölzel, I. Kubisch, Thomas StauchAbstract:Porphyrias are caused by enzyme defects of heme biosynthesis. According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e.g. acute intermittent porphyria (AIP), porphyria variegata (VP), hereditary coproporphyria (HCP) and 5‑aminolevulinic acid dehydratase-deficient porphyria (ALADP) are characterized by accumulation of the Porphyrin precursors 5‑aminolevulinic acid (ALA) and porphobilinogen (PBG) that correlate with severe abdominal, psychiatric, neurological or cardiovascular symptoms. Additionally, skin photosensitivity can occur in VP and less frequently, in HCP. Decisive for the diagnosis of acute hepatic porphyrias are a >4-fold elevated urinary excretion of ALA in ALADP and ALA and PBG in all other acute porphyrias. First-line treatment of an acute porphyria attack includes intensive care with pain management, sufficient caloric supply, strict avoidance of Porphyrinogenic drugs and elimination of other triggering factors. Heme therapy is indispensable in case of developing neurological symptoms and clinical worsening despite first-line measures. Non-acute porphyrias, mainly porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP) and X‑linked protoporphyria (XLP) display accumulation of Porphyrins in the skin and/or liver resulting in photosensitivity up to possible liver damage. Patients with PCT benefit from iron depletion, low-dose chloroquine treatment and/or hepatitis C virus elimination. Afamelanotide is associated with better sunlight tolerance in patients with EPP and XLP. Moreover, innovative therapies that highly selectively address dysregulated steps of the heme biosynthetic pathway are currently under clinical trial. Klinisch und ätiologisch werden Störungen der Hämbiosynthese in akute bzw. nichtakute und erythropoetische bzw. hepatische Porphyrien klassifiziert. Akute hepatische Porphyrien (AHP: akute intermittierende Porphyrie [AIP], Porphyrie variegata [VP], hereditäre Koproporphyrie [HCP] und 5‑Aminolävulinsäure-Dehydratase-Defekt-Porphyrie [ALAD-DP]) sind charakterisiert durch Überproduktion vermutlich neurotoxischer Porphyrinvorläufer, deren Anflutung mit abdominellen, psychiatrischen, neurologischen und kardiovaskulären Symptomen korreliert. Bei der VP und in geringerem Umfang auch bei der HCP kann es zusätzlich zu einer Fotosensibilität der Haut kommen. Entscheidend für die Diagnose einer AHP sind die >4-fach erhöhte Urinausscheidung von 5‑Aminolävulinsäure (ALA) bei der ALAD-DP und zusätzlich von Porphobilinogen (PBG) bei allen anderen akuten Porphyrien. Die Erstlinientherapie einer akuten Porphyrie umfasst Symptomlinderung unter Vermeidung Porphyrinogener Medikamente und die Elimination auslösender Faktoren. Initial ist eine intensivmedizinische Behandlung mit Sicherung der kalorischen Versorgung unverzichtbar. Bei Versagen dieser Maßnahmen und bei neurologischen Symptomen besteht die Indikation für eine Hämtherapie. Bei den nicht akuten Porphyrien, hauptsächlich der Porphyria cutanea tarda (PCT), der erythropoetischen Protoporphyrie und der X-linked Protoporphyrie (XLP) kommt es zur Akkumulation von Porphyrinen in der Leber und Haut. Dies führt zur Fotosensitivität bis hin zu möglichen Leberschäden. Patienten mit PCT profitieren von einer Eisendepletion, Chloroquin in niedriger Dosis und/oder einer Hepatitis-C-Elimination. Afamelanotid bewirkt bei Patienten mit EPP und XLP eine bessere Lichtverträglichkeit. Gegenwärtig werden innovative Therapien, die hochselektiv in die dysregulierte Hämsynthese eingreifen, in klinischen Studien untersucht.
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Heme Synthesis Defects and Porphyrias
Physician's Guide to the Diagnosis Treatment and Follow-Up of Inherited Metabolic Diseases, 2014Co-Authors: Ulrich Stölzel, Thomas Stauch, Manfred O. DossAbstract:Porphyrias are metabolic disorders of the heme biosynthesis. Clinically, they can be differentiated into acute and non-acute porphyrias. The symptomatic phase of acute hepatic porphyrias is characterized by overproduction of neurotoxic Porphyrin precursors and Porphyrins. Acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and Doss porphyria (ALSDP) belong to this group of metabolic disorders. The clinical presentation of the acute hepatic porphyria syndrome includes abdominal, psychiatric, neurological, and cardiovascular symptoms. The diagnosis is based on an at least tenfold increased urinary excretion of porphobilinogen (apart from Doss porphyria and lead intoxication). Besides symptomatic therapy with non-Porphyrinogenic drugs, electrolyte compensation, and intensive monitoring, intravenous administration of glucose and heme arginate is established for treatment. Among the non-acute types like porphyria cutanea tarda, erythropoietic protoporphyria, and congenital erythropoietic porphyria, the accumulated Porphyrins cause photosensitivity of the skin and in some cases severe liver damage. X-linked protoporphyria (XLPP) represents a new type of protoporphyria, with 5-aminolevulinic acid synthase 2 gain of function leading to high concentrations of free protoPorphyrin IX. The location of the deficient enzyme within the heme biosynthetic pathway determines the pattern of the accumulated Porphyrins. The cDNA of all enzymes of heme biosynthesis have been characterized, and mutations responsible for any of the porphyrias have been described. Besides light protection, there are different therapies depending on the type of non-acute porphyria. Ultimately, liver transplantation may be considered in therapy-resistant cases of acute hepatic porphyrias and bone marrow transplantation in severe cases of erythropoietic porphyrias.
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Porphyrien
Der Internist, 2010Co-Authors: Ulrich Stölzel, Thomas Stauch, Manfred O. DossAbstract:Porphyrien sind Stoffwechselerkrankungen, denen eine Störung der Hämbiosynthese zugrunde liegt. Klinisch wird zwischen akuten und nicht-akuten Porphyrien differenziert. Bei symptomatischen akuten hepatischen Porphyrien werden vermehrt Porphyrinvorläufer, denen neurotoxische Eigenschaften zugeschrieben werden, und Porphyrine synthetisiert. In diese Gruppe gehören die akute intermittierende Porphyrie, die Porphyria variegata, die hereditäre Koproporphyrie und die Doss-Porphyrie. Klinisch entwickelt sich ein akutes Syndrom mit abdominellen, psychiatrischen, neurologischen und kardiovaskulären Symptomen. Eine mehr als 10-fache Erhöhung von Porphobilinogen oberhalb der Norm im Spontanurin ist (außer bei Doss-Porphyrie) für die Diagnose ausschlaggebend. Neben der symptomatischen Therapie mit nicht Porphyrinogenen Medikamenten, Elektrolytausgleich und intensiver Überwachung sind Glukose und Hämarginat intravenös zur Behandlung etabliert. Bei den nicht-akuten Formen – Porphyria cutanea tarda, erythropoetische und X-chromosomal-dominante Protoporphyrie sowie kongenitale erythropoetische Porphyrie – führen akkumulierte Porphyrine zur Lichtempfindlichkeit der Haut (Photodermatose) und schweren Leberschäden. Der jeweilige Enzymdefekt prägt aufgrund seiner Position in der Hämbiosynthesekette das diagnostisch wegweisende Muster akkumulierter Porphyrine. Sämtliche nicht-akuten Porphyrien erzwingen die Notwendigkeit eines effektiven Lichtschutzes der exponierten Hautareale. Daneben gibt es, je nach Störung, weitere spezifische Therapieoptionen. Eine definitive Heilmethode stellt bei den therapierefraktären akuten hepatischen Porphyrien als ultima ratio die Lebertransplantation dar, während schwere Verlaufsformen der erythropoetischen Porphyrien durch eine allogene Knochenmarkstransplantation geheilt werden können. Porphyrias are metabolic disorders of the heme biosynthesis. Clinically, they can be differentiated into acute and non-acute porphyrias. The symptomatic phase of acute hepatic porphyrias is characterized by overproduction of neurotoxic Porphyrin precursors and Porphyrins. Acute intermittent porphyria, Variegate porphyria, Hereditary coproporphyria and Doss porphyria belong to this group of metabolic disorders. The clinical presentation of the acute hepatic porphyria syndrome includes abdominal, psychiatric, neurological and cardiovascular symptoms. The diagnosis is based on a tenfold increased urinary excretion of porphobilinogen (apart from Doss porphyria). Besides symptomatic therapy with non-Porphyrinogenic drugs, electrolyte compensation and intensive monitoring, intravenous administration of glucose and heme arginate is established for treatment. Among the non-acute types like Porphyria cutanea tarda, Erythropoietic protoporphyria and Congenital erythropoietic porphyria, the accumulated Porphyrins cause photosensitivity of the skin up to severe liver damage. The location of the deficient enzyme within the heme biosynthesic pathway determines the pattern of the accumulated Porphyrins. Besides light protection, there are different therapies depending on the type of non-acute porphyria. Ultimately, liver transplantation may be considered in therapy-resistant cases of acute hepatic porphyrias and bone marrow transplantation in severe cases of erythropoietic porphyrias.
F. Moll - One of the best experts on this subject based on the ideXlab platform.
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Lack of Effect of Oral Charcoal in Congenital Erythropoietic Porphyria
The New England journal of medicine, 1994Co-Authors: Elisabeth I. Minder, Xiaoye Schneider-yin, F. MollAbstract:To the Editor: Congenital erythropoietic porphyria is a rare autosomal recessive disorder with progressive photomutilation and hemolysis due to excessive Porphyrin production. Published studies have shown that oral treatment with activated charcoal to absorb intraluminal Porphyrins in the intestine was effective in reducing the Porphyrin concentration and clinical symptoms in three patients1–3. Efficacy over a prolonged period was reported in one patient1. A 44-year-old patient with clinically and biochemically confirmed congenital erythropoietic porphyria was treated with two different brands of charcoal emulsion for a total of 32 days. One brand had been used with success in a . . .
Pertti Mustajoki - One of the best experts on this subject based on the ideXlab platform.
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Treatment of the porphyrias.
Annals of Medicine, 1994Co-Authors: Raili Kauppinen, K. Timonen, Pertti MustajokiAbstract:There are seven porphyrias which are caused by defective functions of the enzymes in the haem biosynthesis. Pathogenic mechanisms and symptoms differ greatly in individual porphyrias and, consequently, most of them require a specific therapy. Clinically, the three most important entities are acute porphyric attack, porphyria cutanea tarda and protoporphyria.For an acute porphyric attack the treatment of choice is administration of haem; the other measures are elimination of precipitating factors and symptomatic therapy for many associated symptoms. Porphyria cutanea tarda is controlled by removal of iron by phlebotomies or with low-dose chloroquine. Skin symptoms in protoporphyria can be alleviated with betacaroten but there is no effective procedure to normalize disturbed Porphyrin metabolism; hepatic failure seen in some patients may need a liver transplantation. The only effective treatment in congenital erythropoietic porphyria is probably a bone marrow transplantation. No satisfactory treatment is av...
