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Your search term(s) "Porphyria" returned 6 results.

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Dermatological Disease in Patients With CKD. American Journal of Kidney Diseases. 51(2): 331-344. February 2008.

Dermatologic disorders are common in patients with end-stage renal disease (ESRD). This article presents detailed information about dermatological disease in patients with chronic kidney disease (CKD). The information is presented entirely in outline format, with brief sentences under each topic. The article covers general changes in skin, uremic pruritus or itching, acquired perforating dermatosis (APD), bullous lesions, porphyria cutanea tarda (PCT), calcific uremic arteriolopathy (CUA), nephrogenic systemic fibrosis (NSF), and dermatologic manifestations associated with common kidney diseases, including Henoch-Schönlein purpura, cryoglobulinemia, systemic lupus erythematosus (SLE), and atheroembolic disease. The article discusses the role of gadolinium in NSF. For each condition, the article covers pathogenesis, clinical features, histologic characteristics, diagnostic strategies, and treatment options. Each section concludes with a brief list of references and is illustrated with full-color photographs. 9 figures. 1 table. 24 references.

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Porphyria. Bethesda, MD: National Digestive Diseases Information Clearinghouse. 2008. 11 p.

This fact sheet familiarizes readers with porphyria, a group of disorders that affect the nervous system, skin, or both. Each type of porphyria is due to the deficiency of one of the enzymes needed to make a substance in the body called heme. Heme is a red pigment composed of iron, linked to a chemical called protoporphyrin. Heme in the blood and bone marrow is in the form of hemoglobin within red blood cells. In the liver, heme is a component of proteins that have many functions, including breaking down hormones, drugs, and other chemicals and generating high-energy compounds that keep liver cells alive and functioning normally. The fact sheet reviews the different types of porphyria; the causes of porphyria, which is usually a genetic disorder; triggers that can cause porphyria to become apparent; the symptoms of the condition; diagnostic tests used to confirm the condition; and treatment options. Gastrointestinal symptoms that may be due to porphyria include vomiting or constipation because of the disease’s effect on the nervous system. Readers are referred to online publications and resource organizations, including the American Porphyria Foundation at 1–866–273–3635 or www.porphyriafoundation.com, the National Organization for Rare Disorders at 1–800–999–6673 or www.rarediseases.org, and the Iron Disorders Institute at 1–888–565–4766 or www.irondisorders.org. The document includes a summary of the activities of the National Digestive Diseases Information Clearinghouse (NDDIC), a service of the National Institute of Diabetes and Digestive and Kidney Diseases.

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Children with Erythropoietic Protoporphyria. Canadian Porphyria Foundation National Newsletter. p. 4, 8. Summer 2006.

This article, from a newsletter for people with porphyria, discusses children with erythropoietic protoporphyria (EPP), one of the bone-marrow-based porphyrias. The primary symptom of EPP is sun-sensitivity. EPP usually manifests itself in childhood, and can be diagnosed by a fractionated red-cell porphyrin blood test or a free erythrocyte protoporphyrin blood test, and by finding the presence of elevated protoporphyrin levels in the red cells tested. Treatment for these children is the same as for adults with EPP: Protect the skin from excessive skin exposure with protective clothes and opaque sunscreens. The oral drug Lumitene can, in many patients, prevent the chemical reactions caused by the excess protoporphyrins which lead to the symptoms of EPP. The author then details some strategies for parents to use when helping to protect their children's skin from sunlight, including the use of sun-protective clothing, how to protect the hands and feet, and coping with outdoor family activities.

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Hereditary Hemochromatosis and Porphyria. Canadian Porphyria Foundation National Newsletter. p. 3, 6. Summer 2006.

This article, from a newsletter for people with porphyria, considers the connection between hereditary hemochromatosis and porphyria. Hereditary hemochromatosis is a disorder that results in the deposition of iron in the cells of the body, causing tissue damage and dysfunction in the organ where it is deposited. The author reviews the pathology, symptoms, genetics, diagnosis, and treatment of hereditary hemochromatosis. The author then reminds readers that porphyria cutanea tarda (PCT) is caused by reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver, which then leads to the accumulation of uroporphyrins and a variety of skin manifestations. Acquired PCT, also called sporadic PCT, is associated with alcohol abuse, estrogens, liver disease, and iron overload. Iron often triggers the clinical manifestations of PCT by inactivating URO-D. Sixty percent or more of people with PCT have increased iron stores; many of these have hereditary hemochromatosis. A brief glossary of terms concludes the article.

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Neurovisceral Porphyrias: What a Hematologist Needs to Know. IN: Hematology 2005. Washington, DC: American Society of Hematology. 2005. pp. 24-30.

This article reviews the neurovisceral porphyrias, disorders characterized by a deficiency of a specific enzyme involved in heme-the iron-containing part of the hemoglobin molecule—synthesis. The author reviews four inherited disorders, all classified as acute or inducible hepatic porphyrias. These disorders usually remain asymptomatic for most of the lifespan of the individuals who inherit the specific enzyme deficiencies, but may cause life-threatening attacks of neurovisceral symptoms. The four disorders are: ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type 1. The author encourages clinicians to maintain a health index of suspicion for these conditions, particularly in patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment for all but mild attacks of the acute porphyrias is intravenous hemin therapy. 2 figures. 4 tables. 16 references.

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Lab Investigation of the Porphyrias. Canadian Porphyria Foundation National Newsletter. p. 2, 6. Winter 2004.

This article, from a newsletter for people with porphyria, discusses laboratory tests used to investigate the porphyrias. The term porphyria refers to a group of conditions resulting from defects in heme biosynthesis. Heme is the iron-containing ring structure in hemoglobin to which oxygen binds. Hemoglobin is found in the red blood cells, resulting in a means to transport oxygen to various organs and cells of the body. The author discusses the differences between acute and non-acute porphyrias, the symptoms of each, the sample types that are used in the laboratory, and how they are each analyzed. The acute porphyrias are characterized by the accumulation of the porphyrin precursors, PBG and ALA, that are almost exclusively measured in the urine. Urine collected over a 24-hour period is the best indication of overall excretion. Specimens must be preserved by refrigeration. Some laboratory physicians advocate the measurement of porphyrins in blood, as an aid to diagnosis. For the diagnosis of erythropoietic protoporphyria, blood is used. Stool specimens are of use not for diagnosis, but to distinguish among the types of porphyrias, particularly the coproporphyrias. One table summarizes the classification of the porphyrias, their symptoms, and the use of blood, urine, or stool testing. 1 table.

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