1. Porphyrias: Clinical Manifestations, Diagnosis And Treatment MEDSTUDENTS-METABOL Clinical manifestations, diagnosis, etiology and treatment of six types ofporphyrias are rapidly discussed. Pathogenesis constitutes a complex and wide http://www.medstudents.com.br/metdis/metdis3.htm

METABOLIC DISORDERS Medstudents' Homepage Porphyrias: Clinical Manifestations, Diagnosis and Treatment Definition Porphyrias are inherited or adquired diseases that result from an abnormal metabolism of heme biosynthesis pathway. The main causes are enzyme deficiencies that lead to heme pathways intermediates accumulation. Heme biosynthesis occurs almost entirely in the liver and bone marrow and is composed by eight reactions, each one of these being catalyzed by an especific enzyme. Therefore, partial or complete deficiency of one of these enzymes result in diferents clinical pictures. We will focus our discussion mainly on clinical grounds. Classification There are two major groups of porhyrias according to the site where dysfunction occurs, i.e, hepatic and erythropoietic porphyrias. Among erythropoietic types, there are: Congenital Erythropoietic Porphyria and Protoporphyria. Hepatic porphyrias are: Intermitent Acute Porphyria, Hereditary Coproporphyria, Variegate Porphyria and Porphyria Cutanea Tarda. It is important to recognize that the three most common types of porphyrias are Intermitent Acute Porphyria (IAP), Porphyria Cutanea Tarda (PCT) and Protoporphyria (PP). Clinical Manifestations and Diagnosis Intermitent Acute Porphyria: The majority of patients are assymptomatic. Signs and symptoms rarely start before puberty. The initial and commonest manifestation is abdominal pain, which can be diffuse or localized, colicky. The clinical picture may mimic an accute inflammatory abdominal disease. It is caused by an altered autonomic activity. Peripheral neuropathy is primarily motor, beginning in proximal muscles, more often in the arms. Cranial nerves manifestations my lead to optic nerve atrophy. CNS abnormalities include seizures, delirium and coma. Hepatic dysfunctions are common. Precipitating factors are drugs as barbiturates, sulfonamides, estrogens and dietary restriction of carbohydrates. Diagnosis is made on clinical grounds and increased erythrocytic and urinary porphobilinogen and aminolevolinic acid (ALA) levels (metabolic intermediates of heme).

2. OHSU Division Of Hematology & Medical Oncology An article by Thomas G. DeLoughery, Associate Professor of Medicine. http://www.ohsu.edu/som-hemonc/handouts/deloughery/por.shtml

Contact Information: 3181 SW Sam Jackson Park Rd Portland, OR 97239-3098 Phone: (503) 494-6594 Email: hemonc@ohsu.edu Find a Doctor FAQ Sheet Construction Updates About our Division Clinical Trials Our Faculty About our Clinic ... Prostate Cancer Program Healthcare Professionals Physician Career Opportunities Fellowship Program Faculty Publications and Research Interests Dr. Thomas Deloughery's Famous Handouts ... Dr. Skach's Lab General Information Hem Onc in the News Helpful Links Lance Armstrong Foundation OHSU Hem Onc Wears Yellow News Upcoming Events ASH 2004 Faculty Spotlight Craig Nichols, M.D. Division Chief "The disease of cancer will be banished from life by calm, unhurrying, persistent men and women, working with every shiver of feeling controlled and suppressed in hospitals and laboratories, and the motive that will conquer cancer will not be pity or horror; it will be curiosity to know how and why." H.G. Wells, 1901

3. Porphyria Page A patient guide for all people with this disorder. Compiled by Professor Michael Moore. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Porphyrias: Clinical Manifestations, Diagnosis And Treatment MEDSTUDENTS-METABOL A short review of hemochromatosis, giving atention mainly to its etiology, clinicalmanifestations, treatment and prognosis.Importance about early diagnosis http://www.medstudents.com.br/metdis/metdis4.htm

METABOLIC DISORDERS Medstudents' Homepage Hemochromatosis Definition Hemochromatosis is a disease due to increased iron absorption that leads to accumulation of iron in diverse tissues. Classification It can be hereditary (primary hemochromatosis) or secondary to chronic anemias as ß-thalassemias (ineffective erythropoiesis leading to increased erythrocitic destruction) or defects in hemoglobin synthesis ( as in porphyria cutanea tarda) ;multiple transfusion therapy ;or others less common conditions. Pathogenesis Iron absorption from the gut occurs normally in a rate of 1 mg per day. In hemochromatosis this absortion reaches the rate of 4 to 5 mg/d and there is a progressive accumulation to 15 to 40 grams of body iron (normal ~ 2 to 3 g). Thus, the disease develops in men above age 20 and postmenopausal women, due to stopping in iron loss in menses. The iron accumulates in every tissue of the body, but main clinical manifestations are secondary to iron deposition in: Liver, thyroid, hypothalamus, heart, pancreas, gonads and joints. Clinical Manifestations Many patients are asymptomatic. Common symptoms are fatigue, arthalgias, impotence, amenorrhea and palpitations. The most characteristical clinical manifestation occur in the liver because the portal circulation filters the iron initially absorbed fom the gut. Usually patients develop cirrhosis. Heart manifestations include arrythmias and disturbances of conduction. Skin adquires an diffuse hyperpigmentation mainly in scars, sun exposed and unexposed areas and genitalia. Arthropathy occurs in wrists, hips, knees and ankles. To distinguish this arthopathy from others, searching for initial involvement of second and third metacarpophalangeal joints is helpful. Hypogonadism hipogonadothrofic is secondary to iron deposition in hypophisary cells and leads to loss of libido, amenorrhea, impotence and body hair losing. Diabetes Mellitus results from pancreatic accomitment and the signs and symptons, as the treatment, do not differ from conventional diabetes.

5. Porphyrias Clinical Manifestations, Diagnosis And Treatment Clinical manifestations, diagnosis, etiology and treatment of six types of porphyrias are discussed. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. THE PORPHYRIAS Recognize the common porphyrias. Suspect porphyria when appropriate, order the right The porphyrias are a family of diseases caused by errors of heme http://www.pathguy.com/lectures/porphyri.htm

THE PORPHYRIAS Ed Friedlander, M.D., Pathologist scalpel_blade@yahoo.com Cyberfriends: The help you're looking for is probably here. Welcome to Ed's Pathology Notes, placed here originally for the convenience of medical students at my school. You need to check the accuracy of any information, from any source, against other credible sources. I cannot diagnose or treat over the web, I cannot comment on the health care you have already received, and these notes cannot substitute for your own doctor's care. I am good at helping people find resources and answers. If you need me, send me an E-mail at scalpel_blade@yahoo.com Your confidentiality is completely respected. DoctorGeorge.com is a larger, full-time service. There is also a fee site at myphysicians.com , and another at www.afraidtoask.com Translate this page automatically With one of four large boxes of "Pathguy" replies. I'm still doing my best to answer everybody. Sometimes I get backlogged, sometimes my E-mail crashes, and sometimes my literature search software crashes. If you've not heard from me in a week, post me again. I send my most challenging questions to the medical student pathology interest group, minus the name, but with your E-mail where you can receive a reply. Slice of Life videodisk. No medical student should be without access to this wonderful resource. Someday you may be able to access these pictures directly from this page.

7. The Merck Manual Endocrine And Metabolic Disorders Chapters on a variety of endocrine problems such as hyperlipidemia, polyglandular deficiency syndromes, the porphyrias, amyloidosis, and others. http://www.merck.com/mrkshared/mmanual/section2/sec2.jsp

8. MEDIC CLINICAL HANDBOOK porphyrias (in development) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. MEDIC: CLINICAL HANDBOOK porphyrias are a group of inherited disorders of heme synthesis. Only one normalgene is present to produce a key functional enzyme in heme synthesis. http://medic.med.uth.tmc.edu/path/00000884.htm

Porphyrias (in development) Introduction Types of Porphyrias Laboratory Diagnosis Summary Laboratory Tests with normal ranges Clinical Tracks Basic Science Review Computer Assisted Diagnosis Introduction Porphyrias are a group of inherited disorders of heme synthesis. Only one normal gene is present to produce a key functional enzyme in heme synthesis. This results in at least a 50% of the normal enzyme activity. This reduced level of enzyme results in a build up of precursors behind the deficient enzyme which then accumulate in body fluids and tissues. The clinical manifestations, cutaneous lesions, neurologic dysfunction, and hepatic disease, characteristic to each type of porphyria are due to the toxic nature of these precursor compounds. delta - Aminolevulinic Acid (ALA) dehydrase deficiency Acute Intermittent porphyria Congenital erythropoietic porphyria Porphyria cutanea tarda Hepatoerythropoietic porphyria ... Protoporphyria Laboratory Diagnosis Summary

10. EPP Frames Short for Erythropoetic ProtoPorhyria, which is a rare metabolic disease. A personal site about this disorder, one of the family of porphyrias. http://members.tripod.com/~Alzuko/epp.htm

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11. Home - Canadian Porphyria Foundation Mission statement, objectives of the organization, newsletters and safe and unsafe drugs. Also A Guide to Porphyria a complete booklet of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. THE PORPHYRIAS The porphyrias. © Dr. Maged N. Kamel Boulos MediCAD Multimedia, 1995-98.All rights reserved. http//www.medicad.com. Acronyms AIP, Acute Intermittent http://www.geocities.com/stantonios/mc/porphyria.html

The Porphyrias http://www.medicad.com Acronyms: AIP, A cute I ntermittent P orphyria; CEP, C ongenital E rythropoietic P orphyria; PCT, P orphyria C utanea T arda; HEP, H epato e rythropoietic P orphyria; HCP, H ereditary C opro p orphyria; VP, V ariegate P orphyria; EPP, E rythropoietic P roto p orphyria Mechanism of porphyrin-induced photosensitivity: The photosensitivity of the skin in porphyria is due to porphyrins absorbing ultraviolet radiation in the 400 nm range and emitting an intense red fluorescence. Porphyrins, when irradiated with light of the appropriate wavelength in the presence of oxygen, will cause photodynamic effects. Light energy absorbed by the porphyrin raises electrons into an excited state. Energy released on return of the molecule to its original state reacts with oxygen to produce free radicals and singlet oxygen (O) which damages molecules, cells and tissues. Unsaturated lipids are particular targets for activated oxygen species; cell damage results from the resulting plasma membrane and lysosomal membrane injury and also from complement activation. b -Carotene, a known quencher of free radicals and singlet oxygen, has a photoprotective effect in porphyria.

13. Porphyria Pediatric Oncall Information on porphyrias including the various types and its management. http://www.pediatriconcall.com/fordoctor/diseasesandcondition/porphyrias.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out PORPHYRIAS UserName Password New Register Forgot password Dr Ira Shah M.D, DCH(Gold Medalist), FCPS, DNB Q: What is porphyria? A: Porphyrias are a heterogeneous group of either inherited or acquired disorders of heme biosynthesis which cause either skin problems or a condition known as acute attack. Q: How do porphyrias occur? A: Porphyrias are a rare disorder. They occur due to specific abnormality of various enzymes in the biosynthetic pathway of heme production. As a result, excess amounts of porphyrias and their precursors accumulate in the body causing generalized clinical abnormalities. Q: What are the various types of porphyrias ?

14. Porphyria porphyrias general mechanism Overproduction syndromes Acute porphyrias General. Syndromes Acute intermittent porphyria http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Cheryl Ann's Porphyria Links porphyrias Introduction, Types and Laboratory Diagnosis Summary Porphyrins andporphyrias 1997 Meeting Page Rare Diseases Clinical Trials Pertaining to http://www.geocities.com/porphyria2000/porphs.htm

The Porphyrias Home Links A Guide for People with Porphyria - Includes SAFE and UNSAFE Drug List Center For Study of Disorders of Iron and Porphyrin Metabolism ... Cheryl Ann

16. Acute Intermittent Porphyria Forum fluctuations in female sex hormones may also precipitate acute porphyrias infections starvation http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. THE MERCK MANUAL, Sec. 2, Ch. 14, The Porphyrias The porphyrias A group of disorders cause by deficiencies of enzymes of the porphyrias and related disorders are associated with deficiencies of the http://www.merck.com/mrkshared/mmanual/section2/chapter14/14a.jsp

18. Porphyria Erythropoietic porphyrias Hepatic porphyrias Erythropoietic porphyrias Hepatic porphyrias http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. THE MERCK MANUAL--SECOND HOME EDITION, Introduction In Ch. 160, Porphyrias porphyrias are a group of disorders caused by deficiencies of enzymes involved porphyrias are a number of different diseases, each caused by a specific http://www.merck.com/mmhe/sec12/ch160/ch160a.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Disorders of Nutrition and Metabolism Chapter Porphyrias Topics Introduction Acute Intermittent Porphyria Erythropoietic Protoporphyria Porphyria Cutanea Tarda Introduction Buy The Book Print This Topic Email This Topic Pronunciations acute intermittent porphyria cutaneous erythropoietic protoporphyria hemoglobin ... porphyria Porphyrias are a group of disorders caused by deficiencies of enzymes involved in the production of heme. Heme is produced in the bone marrow and liver through a complex process regulated by eight different enzymes. As this production process progresses, several different intermediate compounds (heme precursors) are created and modified. If there is a deficiency in one of the enzymes that are essential for heme production, certain heme precursors may accumulate in tissues (especially in the bone marrow or liver), appear in excess in the blood, and get excreted in the urine or stool. The specific precursors that accumulate depend on which enzyme is deficient. One group of heme precursors is called the porphyrins.

20. Centre Fran Ais Des Porphyries Centre de diagnostic, de traitement, de pr vention et de recherche sur les Porphyries humaines http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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