21. Virtual Hospital : Health Topics A-Z : Alpha-1 Antitrypsin Deficiency Health Topics AZ alpha1 antitrypsin deficiency. The International Thoracic Teaching Resource alpha-1 antitrypsin deficiency For Adult Patients. http://www.vh.org/navigation/vh/topics/adult_provider_alpha-1_antitrypsin_defici

Health Topics A-Z Alpha-1 Antitrypsin Deficiency All Topics Adult Patient Topics Adult Provider Topics Pediatric Patient Topics ... Pediatric Provider Topics For Adult Providers The International Thoracic Teaching Resource: Alpha-1 Antitrypsin Deficiency For Adult Patients Health Prose: AAT Deficiency: A Serious Disorder Largely Unknown All Topics Adult Patient Topics Adult Provider Topics ... UI Health Care Home http://www.vh.org/navigation/vh/topics/adult_provider_alpha-1_antitrypsin_deficiency.html

22. Virtual Hospital: The International Thoracic Teaching Resource: Chronic Obstruct See related Patient Topics alpha1 antitrypsin deficiency, COPD (Chronic Obstructive Pulmonary www.vh.org/adult/provider/radiology/ITTR/Alpha1/Alpha1.html. http://www.vh.org/adult/provider/radiology/ITTR/Alpha1/Alpha1.html

For Providers The International Thoracic Teaching Resource: Chronic Obstructive Lung Disease Alpha-1-antitrypsin deficiency Jeffrey R. Galvin, M.D.; Michael P. D'Alessandro, M.D.; Yasayuki Kurihara, M.D. Peer Review Status: Internally Peer Reviewed Clinical Sx: Alpha-1-antitrypsin deficiency causes panacinar emphysema is responsible for 2% of all cases of emphysema in the US. Typically the patients are middle age. Other clinical symptoms are neonatal cholestasis, hepatitis, liver cirrhosis, and ulcerative panniculitis. Etiology: Mendelian inheritance consistent with deficiency gene. The gene for Alpha-1-antitrypsin is present on chromosome 14 and expressed in the hepatocyte and in the mononuclear phagocyte. Two Parental alleles, Z type and S type, are codominantly expressed. Therefore phenotypes, null-null, ZZ, and SZ, are responsible for emphysema. Pathophysiology: Inhibited proteases of leukocytic origin probably are partly responsible for the damage to the lung in the absence of the major protease inhibitor. Pathology: Pan lobular emphysema Miscellaneous: Imaging: Radiographically, severe emphysematous changes are present predominantly in the lower lobes. There may be increased vascularity of the upper lobes. Evidence of pulmonary hypertension and right ventricular enlargement is often present. The plain chest x-ray may not be particularly abnormal in the early stages.

23. Alpha-1-antitrypsin Deficiency Understanding alpha1 antitrypsin deficiency - Understanding alpha-1 antitrypsin deficiency Table of Contents alpha-1 antitrypsin deficiency. http://www.health-nexus.com/alpha-1-antitrypsin_deficiency.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alpha-1-Antitrypsin Deficiency Alpha 1 Association Organization which attempts to identify those affected by alpha-1-antitrypsin deficiency and to improve their quality of their lives through support, education, advocacy and research. Understanding Alpha-1 Antitrypsin Deficiency ... Understanding Alpha-1 Antitrypsin Deficiency Table of Contents ... Introduction What is alpha-1 antitrypsin deficiency? How do normal ... symptoms of alpha-1 antitrypsin deficiency? Can the disorder ... questions about alpha-1 antitrypsin deficiency. It contains ... Alpha-1 Antitrypsin Deficiency Home page. Normal protein folding. Cystic fibrosis. Alpha-1-antitrypsin. Nephrogenic diabetes insipidous.

24. Understanding Alpha-1 Antitrypsin Deficiency Understanding alpha1 antitrypsin deficiency. What is alpha-1 antitrypsin deficiency? What are the signs and symptoms of the alpha-1 antitrypsin deficiency? http://www.clevelandclinic.org/health/health-info/docs/1100/1138.asp?index=5731&

25. Alpha-1 Antitrypsin Deficiency Respiratory. alpha1 antitrypsin deficiency. alpha-1 antitrypsin deficiency is an inherited disorder which can lead to emphysema at a young age. http://gradyhealthsystem.client.web-health.com/web-health/topics/GeneralHealth/g

Lungs Alpha-1 Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is an inherited disorder which can lead to emphysema at a young age. Alpha-1 Antitryspin Deficiency What is alpha-1 antitrypsin? Alpha-1 antitrypsin is a protein made in the liver . From the liver, alpha-1 antitrypsin is released into the bloodstream, to travel to the lungs. In the lungs, alpha-1 antitrypsin protects lung tissue from the harmful effects of neutrophil elastase. Neutrophil elastase is an enzyme (specialized protein) produced by white blood cells to help fight bacteria and clean up dead lung tissue. Despite its useful role in fighting infection, however, neutrophil elastase also has the potential to be harmful, damaging healthy lung tissue. The alpha-1 antitrypsin protein is responsible for blocking the action of neutrophil elastase, to protect the lungs from damage. What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency is a disorder in which there are inadequate levels of alpha-1 antitrypsin in the bloodstream. Without sufficient alpha-1 antitrypsin, the lungs are vulnerable to damage from neutrophil elastase.

26. Discovery Health Website alpha1 antitrypsin deficiency. What is alpha-1 antitrypsin deficiency? The liver is also damaged by alpha-1 antitrypsin deficiency, as are the lungs. http://www.discoveryhealth.co.uk/encyclopaedia/default.asp?type=atoz&storyid=117

27. Bbc.co.uk - Health - Illnesses And Conditions Alpha-1-antitrypsin Deficiency alpha1 antitrypsin deficiency by Dr Trisha Macnair and Dr Rob Hicks A rare cause of common problems Inherited from both parents Genetic factors Over-inflated http://www.bbc.co.uk/health/conditions/alpha_1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index WEDNESDAY 2nd June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions Alpha-1 Antitrypsin deficiency by Dr Trisha Macnair and Dr Rob Hicks A rare cause of common problems Inherited from both parents Genetic factors ... Having a family A rare cause of common problems The same illness may have different causes, some common, and some uncommon. Take emphysema, for example, most often it's smoking that causes this unpleasant lung disease, but the effects of working down a mine for many years may also be responsible. Liver cirrhosis is commonly the result of drinking too much alcohol, but it may also be caused by hepatitis infection. Then there are the more rare, but equally important causes of these diseases, such as Alpha-1-antitrypsin deficiency. Inherited from both parents Alpha-1 Antitrypsin (AAT) deficiency is an inherited condition where a person lacks a protein known as alpha-1 antitrypsin. There may be low levels of the protein but it doesn't work properly. Alpha-1-antitrypsin (A-1-A) is made in the liver. It is particularly important in the lung where it mops up another enzyme called neutrophil elastase. This enzyme normally digests damaged or ageing lung cells, foreign particles and bacteria, but has the potential to harm healthy lung tissue. In Alpha-1 Antitrypsin deficiency, neutrophil elastase cannot be neutralised and so is able to destroy healthy tissue.

28. Alpha-1 Antitrypsin Deficiency - Genetics Home Reference Genetic disorder catalog. alpha1 antitrypsin deficiency. What is alpha-1 antitrypsin deficiency? How common is alpha-1 antitrypsin deficiency? http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Alpha-1 antitrypsin deficiency Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Patient support For patients and families Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Alpha-1 antitrypsin deficiency What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. The first signs of lung disease caused by alpha-1 antitrypsin deficiency usually appear between ages 20 and 40. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, a barrel-shaped chest, rapid heartbeat upon standing, and vision abnormalities. Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs. About 10 percent of infants and 15 percent of adults also have liver damage caused by alpha-1 antitrypsin deficiency. Symptoms of liver disease can include a swollen abdomen, coughing up blood, swollen feet or legs, and yellowing of the skin and whites of the eyes (jaundice).

29. HealthCentral - General Encyclopedia - Alpha-1 Antitrypsin Deficiency General Health Encyclopedia, alpha1 antitrypsin deficiency. Causes, incidence, and risk factors alpha-1 antitrypsin deficiency results from a genetic defect. http://www.healthcentral.com/mhc/top/000120.cfm

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30. Alpha-1 Antitrypsin Deficiency Alpha1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. http://www.umdnj.edu/rspthweb/bibs/antitryp.htm

Alpha-1 Antitrypsin Deficiency Belai Y, Hernandez-Juviel JM, Bruni R. Addition of alpha1-antitrypsin to surfactant improves oxygenation in surfactant-deficient rats. Am J Respir Crit Care Med. Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ). Eur Respir J. Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med. Cassina PC, Teschler H, Konietzko N, et al. Two-year results after lung volume reduction surgery in alpha1- antitrypsin deficiency versus smoker's emphysema. Eur Respir J. Mahadeva R, Lomas DA. Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax. Mahadeva R, Stewart S, Bilton D, Lomas DA. Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease. Thorax. Paone G, Brantly M. alpha 1-antitrypsin deficiency. Monaldi Arch Chest Dis.

31. LookSmart - Directory - Alpha-1 Antitrypsin Deficiency deficiency; Alpha1 Association alpha-1 antitrypsin deficiency Find out about AAT deficiency and this support organization. Describes http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us71894/us273

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Alpha-1 Antitrypsin Deficiency - Contains resources on the lung and gastrointestinal aspects of this condition. Includes support-group details. Directory Listings About allRefer Health - Alpha-1 Antitrypsin (AAT or A1AT) Test Measuring the amount of alpha-1 antitrypsin in the serum helps identifying a rare form of emphysema in adults and a rare form of cirrhosis in children. Know its risks. allRefer Health - Alpha-1 Antitrypsin (AAT) Deficiency Discusses the causes, symptoms, signs, risks, diagnosis, prognosis, prevention, and treatment of AAT deficiency. Emphysema and liver disease mark common complications. Alpha One Foundation - Alpha-1 Antitrypsin Deficiency Review the background of this Fla.-based fdn dedicated to researching and ameliorating the ails of those with alpha-1 antitrypsin deficiency Alpha1 Association - Alpha-1 Antitrypsin Deficiency Find out about AAT deficiency and this support organization. Describes how the genetic condition is diagnosed and provides links to resources. AlphaNet Online - Alpha-1 Antitrypsin Deficiency Addresses alpha-1 antitrypsin deficiency, which is associated with liver disorders, emphysema and skin diseases.

32. Alpha-1 Antitrypsin Deficiency Alpha1-Antitrypsin Deficiency. ALPHA-1-ANTITRYPSIN DEFICIENCY. http://www.portfolio.mvm.ed.ac.uk/studentwebs/session2/group5/alpintr.htm

Home page Normal protein folding Cystic fibrosis Alpha-1-antitrypsin ... Authors Alpha-1-Antitrypsin Deficiency ALPHA-1-ANTITRYPSIN DEFICIENCY [introduction] [discovery and prevalence] [serpins] serpin polymerisation ... [case study] INTRODUCTION: Misfolding of proteins during their synthesis can initiate an ordered polymerisation, which leads to the aggregation of the protein within the cell. The most common and severe form of alpha-1-antitrypsin deficiency is caused by the Z mutation, a single base substitution (Gul-342-Lys) in the alpha-1-antitrypsin gene. This slows the rate of protein folding in the cells of synthesis, allowing the accumulation of an intermediate which then polymerises (James EL et al 1999), impeeding its release, and leading to plasma deficiency. Alpha-1-antitrypsin is a serpin Serpin polymerisation results in a variety of diseases, the best studied being lung destruction and sometimes liver damage that results from mutations of the alpha-1-antitrypsin gene. It is now known that serpin polymerisation involves interaction of one serpin molecule with the beta-sheet of another of the same type: the extensive knowledge of this mechanism may help in the development of beta-strand blockers to prevent the self-association of these proteins (Carrell RW, Lomas DA 1997), and this may be applicable to research into the other highly topical conformational diseases, such as Creutzfeldt-Jakob Disease.

33. Alpha-1 Antitrypsin Deficiency - Asthma Symptoms, Relief Therapies, Treatment An MedicineNet Home MedTerms medical dictionary AZ List Asthma Home alpha1 antitrypsin deficiency. Advanced Search. alpha-1 antitrypsin deficiency Index. http://www.medterms.com/script/main/art.asp?articlekey=2208

34. Alpha-1 Antitrypsin Deficiency N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, alpha1 antitrypsin deficiency,. Print this article, deficiency syndrome presenting in infancy as jaundice. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/ALPHA 1 ANTITRYP

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Alpha-1 antitrypsin deficiency, deficiency syndrome presenting in infancy as jaundice. It is one cause of infants presenting with "neonatal hepatitis". The diagnosis is made biochemically. HIDA scanning shows poor fixation of the radiopharmaceutical in the liver and poor excretion. Infants may develop cirrhosis. The disease in adults manifests as emphysema which is predominantly basal. See hepatitis neonatal HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

35. Alpha-1 Antitrypsin Deficiency Access to alpha1 antitrypsin deficiency Denied. The content for this course is not currently active. Reason Course content is http://www.continuingeducation.com/nursing/alpha/

Access to "Alpha-1 Antitrypsin Deficiency" Denied The content for this course is not currently active. Reason: Course content is still under construction, being updated or has expired.

36. ALF - LEARN ABOUT LUNG HEALTH alpha1 antitrypsin deficiency Lung Disease. Alpha-1-antitrypsin deficiency What is alpha-1-antitrypsin deficiency? Alpha-1-antitrypsin deficiency http://www.lungnet.org.au/Fact Sheets/alpha-1-health.html

Alpha-1-antitrypsin deficiency is an inherited disorder which usually affects the lungs. The information presented here is intended to answer your questions and provide you with a better understanding of this rare condition. What is alpha-1-antitrypsin? Alpha-1-antitrypsin is a protein which is produced by the liver and enters the blood stream. Its main role is to protect the lungs from destruction by other proteins called enzymes. Enzymes are found in all parts of the body and are needed for digestion to ensure that chemical reactions in the body proceed normally. Enzymes are also involved in areas of inflammation and tissue injury where they occur as a result of cell damage. What is alpha-1-antitrypsin deficiency? Alpha-1-antitrypsin deficiency is present when there is less than the normal amount of this protein in the blood. It becomes important only when the concentration in the blood is less than 20% to 30% of what we would normally expect. When this deficiency occurs, the lung is poorly protected from destructive enzymes and loss of lung tissue occurs, leading to a condition called emphysema. Once in every 2500 people in Australia has severe alpha-1-antitrypsin deficiency (levels below 20% of normal). This translates to nearly 7000 Australians with alpha-1-antitrypsin deficiency.

37. Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE Re alpha1 antitrypsin deficiency WEB PAGE posted by Peter Lyon Duttweiler on January 26, 1997 at 132827 Thank you so much for the information on Alpha1 http://www.sts.org/discuss/topics/messages-lvrs/299.html

Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE Follow Ups Post Followup STS Discussion Forum FAQ Posted by Joan Friedman on January 26, 1997 at 17:28:19: In Reply to: Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE posted by Peter Lyon Duttweiler on January 26, 1997 at 13:28:27: Thank you so much for the information on Alpha1 Emphysema. It seems as if there could be Emphysema sufferers out there who are not aware that there is a specific test for this Emphysema type. I hope you will continue to post here, this page is for supporting all Emphysema patients, their friends and their families. Please encourage others to join our "Great Lung Rebellion" so, we can educate the public on this disease and finally bring the issues of all Emphysema patient's into the national spotlight. " DON"T HOLD YOUR BREATH" (Take Action !) Joan Friedman Follow Ups: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE Linda Lawrence Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE michael taylor Alpha-1 question on genetics and a comment on what to do with the gene and no illness. Barbara Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE jAIMIE Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE Joan Trussell Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE KEN BOWCOCK Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE ann Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE Karen Portik Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE joe cosgrove Post a Followup Name: E-Mail: Subject: Comments: Optional Link URL: Link Title: Optional Image URL: Follow Ups Post Followup STS Discussion Forum FAQ

38. ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE alpha1 antitrypsin deficiency WEB PAGE. In Reply to Re alpha-1 antitrypsin deficiency WEB PAGE posted by Joan Friedman on January 26, 1997 at 172819 http://www.sts.org/discuss/topics/messages-lvrs/7046.html

ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE Follow Ups Post Followup STS Discussion Forum FAQ Posted by Linda Lawrence on October 18, 1998 at 21:39:54: In Reply to: Re: ALPHA-1 ANTITRYPSIN DEFICIENCY WEB PAGE posted by Joan Friedman on January 26, 1997 at 17:28:19: My mother passed away a year ago with this problem. I was told by my aunt it was possible I could also have Alpha Antitrypsin Deficiency and should have a test to find out if I do. My family doctor has not been able to find out what test I would have to take. I would like any an all information. PLEASE HELP. Follow Ups: Post a Followup Name: E-Mail: Subject: Comments: Optional Link URL: Link Title: Optional Image URL: Follow Ups Post Followup STS Discussion Forum FAQ

39. Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency International Support Mailing List; Alpha1 National Association; Alpha1-Antitrypsin Deficiency National Association; AlphaChat http://www.cannylink.com/diseasealpha1.htm

Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency International Support Mailing List Alpha1 National Association Alpha1-Antitrypsin Deficiency National Association AlphaChat - chat room for those who have A1AD. AlphaNet Online AlphaOne Community Internet Guide - resource and support guide for persons afflicted with this genetic liver and lung disease which causes emphysema and cirrosis. Texas Alpha-1 Resource Support Group - dedicated to identifying, educating and providing emotional support for all individuals and families with alpha-1 antitrypsin deficiency. Back to The Cannylink home page You can e-mail us at Webmaster@cannylink

40. ► Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency. AAT deficiency. Causes, incidence, and risk factors alpha-1 antitrypsin deficiency results from a genetic defect. http://www.umm.edu/ency/article/000120.htm

Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Alpha-1 antitrypsin deficiency Overview Symptoms Treatment Prevention Definition: A deficiency of a protein produced in the liver that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease Alternative Names: AAT deficiency Causes, incidence, and risk factors: Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known, however some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk. Lungs Liver anatomy Review Date: 12/2/2001 Reviewed By: Steven Kawut, M.D., Division of Pulmonary, Allergy, and Critical Care Medicine, Columbia University College of Physicians and Surgeons, New York City, NY. Review provided by VeriMed Healthcare Network. Home Health Info Our Physicians Our Services ... Make Appt.

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