41. Alpha-1 Antitrypsin Deficiency (AATD), Cincinnati Children's Hospital Medical Ce Liver Diseases and Treatments. alpha1 antitrypsin deficiency (AATD). Related Services. Liver Care Center. What is alpha-1 antitrypsin deficiency (AATD)? http://www.cincinnatichildrens.org/svc/prog/liver/diseases/alpha-1-antitrypsin.h

Home Contact Us Site Map Go to Advanced Search ... Alagille Syndrome Alpha-1 Antitrypsin Deficiency Autoimmune Hepatitis Biliary Atresia Gylcogen Storage Disease (GSD) Hepatocellular Carcinoma (Hepatoma) ... Contact Us Liver Diseases and Treatments Alpha-1 Antitrypsin Deficiency (AATD) Related Services Liver Care Center Explanation Causes Symptoms l Diagnosis l Treatment l Prognosis What is alpha-1 antitrypsin deficiency (AATD)? Alpha-1 antitrypsin deficiency (AATD) is a common, serious disease that is passed down from parents to children. It can cause liver and lung disease. In some cases, it can cause a rare skin condition in children and adults called panniculitis (rare form of skin disease that is an inflammation of fat just beneath the skin, causing the skin to harden and form lumps). The liver makes a protein called alpha-1 antitrypsin that goes into the bloodstream. This protein protects the lungs and allows them to work normally. If there is not enough alpha-1 antitrypsin, it is called alpha-1 antitrypsin deficiency (AATD). Alpha-1 antitrypsin deficiency is the most common genetic cause of liver disease in children and is the most common genetic disease for which liver transplantation is done.

42. Alpha-1 Antitrypsin Deficiency (AATD), Cincinnati Children's Hospital Medical Ce Return to Site. alpha1 antitrypsin deficiency (AATD). Related Services. Liver Care Center. What is alpha-1 antitrypsin deficiency (AATD)? http://www.cincinnatichildrens.org/svc/prog/liver/diseases/alpha-1-antitrypsin.h

43. Treatment Of Alpha-1 Antitrypsin Deficiency At Mayo Clinic alpha1 antitrypsin deficiency. AAT Not Uncommon, Mayo Clinic researchers published the first clinical description of alpha-1 antitrypsin deficiency in 1969. http://www.mayoclinic.org/copd/alpha1.html

Home About Mayo Clinic Contact Us Mayo Clinic Locations: Arizona Florida Minnesota Mayo Clinic ... Medical Services Chronic Obstructive Pulmonary Disease (COPD) Chronic Obstructive Pulmonary Disease Overview Treatment Alpha-1 Antitrypsin Deficiency Treatment in Jacksonville ... Medical Services Alpha-1 Antitrypsin Deficiency AAT Not Uncommon AAT is more common than most people realize. It affects one in 3,000 to 5,000 individuals. The two other most common fatal genetic defects are cystic fibrosis and Down syndrome. Mayo Clinic is a leading center for treatment of and research on Alpha-1 antitrypsin (AAT) deficiency, the genetic form of emphysema. AAT, a protein predominantly made in the liver and secreted into the blood stream, helps protect the lungs. Its deficiency may cause lung disease, especially in smokers. Lung disease is the most frequent cause of disability and early death among those affected by the disease. It is also a major reason that patients undergo lung transplants. AAT deficiency can lead to lung destruction and is often misdiagnosed as another form of Chronic Obstructive Pulmonary Disease (COPD) or asthma. The World Health Organization (WHO) recommends that all individuals with COPD, as well as adults and adolescents with asthma (an estimated 30 million Americans), be tested for AAT deficiency. The abnormal protein can also accumulate in the liver and lead to liver failure. It is the leading genetic cause of liver transplantation in children liver transplantation is the only cure so far for this manifestation of AAT deficiency.

44. Alpha-1 Antitrypsin Deficiency - Medcohealth.com Your selection launched a customized search of our library of health information articles related to alpha1 antitrypsin deficiency. http://www.medcohealth.com/medco/consumer/ehealth/ehskeywordsearch.jsp?topicID=A

45. Alpha-1 Antitrypsin Deficiency- Medcohealth.com alpha1 antitrypsin deficiency. Definition. alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

46. Hep C Vets, Understanding Alpha-1 Antitrypsin Deficiency Understanding alpha1 antitrypsin deficiency Introduction. This webpage is to answer your questions about alpha-1 antitrypsin deficiency. http://hepcvets.com/labs/alpha1.html

What's New? Our Latest Additions Hepatitis C Biopsy Books On Liver Disease (Recommended) Clinical Trials Depression Drugs Used In Treatment Fibrosis/Cirrhosis Genotypes Hepatitis B HEP C INFO Only List Sign Up HEP C INFO Only Full Text Medical Articles Herbals / Alternative Medicine Insurance Issues Liver Disease Glossary Miscellaneous Vaccine Information Veterans Table Of Contents Viral Loads What The Heck Is....VERY INFORMATIVE 2002 NIH Hepatitis C Consensus Hep C Vets Bulletin Board Hepatitis C Bulletin Board Our Favorite Links Poetry/Short Stories Understanding Alpha-1 Antitrypsin Deficiency Introduction This webpage is to answer your questions about alpha-1 antitrypsin deficiency. It contains information on signs and symptoms of the disorder as well as risk factors and treatment. When you understand more about alpha-1 antitrypsin deficiency, you will be able to play a more active role in your care. What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin is a protein that is made in the liver. The liver releases this protein into the bloodstream. Alpha-1 antitrypsin protects the lungs so they can work normally. Without enough alpha-1 antitrypsin, the lungs can be damaged, and this damage may make breathing difficult.

47. New Guidelines For Alpha-1 Antitrypsin Deficiency New Guidelines for alpha1 antitrypsin deficiency CME. News Author Laurie Barclay, MD CME Author Désirée Lie, MD, MSEd Authors and Disclosures. http://www.medscape.com/viewarticle/462776

48. Disease - Alpha-1 Antitrypsin Deficiency - Hartford, Connecticut , Saint Francis Disease alpha-1 antitrypsin deficiency. alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. http://www.saintfranciscare.com/1889.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Alpha-1 antitrypsin deficiency Lungs Liver anatomy Definition: Alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease Alternative Names: AAT deficiency Causes And Risk: 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. Symptoms: Shortness of breath with and without exertion Unintentional weight loss wWheezing Additional symptoms that may be associated with emphysema or cirrhosis include the following: Abnormal breathing pattern (exhalation takes more than twice as long as inspiration) Agitation Ankle, feet, and leg swelling

49. Alpha-1 Antitrypsin Deficiency (Disease) - Detroit, Michigan alpha1 antitrypsin deficiency (Disease). alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. http://www.henryfordhealth.org/12223.cfm

Related Content Alpha-1 antitrypsin deficiency (Disease) Lungs Liver anatomy Definition Alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease Alternative Names AAT deficiency Causes And Risk 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. Symptoms Shortness of breath with and without exertion Unintentional weight loss wWheezing Additional symptoms that may be associated with emphysema or cirrhosis include the following: Abnormal breathing pattern (exhalation takes more than twice as long as inspiration) Agitation Ankle, feet, and leg swelling Awakening from sleep not feeling rested Bloody or dark black or tarry bowel movements ( melena Breast development in males Confusion Daytime sleepiness Difficulty falling asleep or staying asleep ( insomnia Difficulty paying attention Dry mouth Excessive thirst Fatigue Fluctuating mood Headache Impaired concentration Impaired judgment Impotence Increased front-to-back diameter of the chest (barrel-shaped chest) Irritability or poor temper control Light-headedness or fainting while standing Memory loss Paleness Rapid heart rate tachycardia ) when rising to a standing position

50. Conditions And Diseases - Alpha-1 Antitrypsin Deficiency Top Links Designed to help you understand Alpha1 Antitrypsin Deficiency and to Understanding alpha1 antitrypsin deficiency - Information on signs and symptoms of this http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Alpha-1 Antitrypsin Deficiency Web Site Links Alpha-1 Antitrypsin Deficiency Association Information about this non profit organization as well as the disorder, research, membership and contact details. Alpha One Foundation Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency. Alpha 1 Awareness Alliance A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports and links. Gentiva Health Services. Designed to help you understand Alpha1 Antitrypsin Deficiency and to provide valuable information regarding treatment programs, services and offers literature. Understanding Alpha-1 Antitrypsin Deficiency Information on signs and symptoms of this disorder, as well as risk factors and treatment. Patient UK A list of resources and support for persons living in the UK who are interested in Alpha-1 Antitrypsin Deficiency. MedicineNet An Alpha-1 antitrypsin deficiency article with details such as what it is, normal lungs and how they work, smoking, risk factors, how it is inherited, signs, symptoms and treatment.

51. ALPHA-1 ANTITRYPSIN DEFICIENCY (Pediatric Oncall) Q How does alpha1 antitrypsin deficiency occur? Q How is the liver affected in alpha-1 antitrypsin deficiency? A There are two primary theories proposed http://www.pediatriconcall.com/fordoctor/DiseasesandCondition/alpha1deficiency.a

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Pharma Updates Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out ALPHA-1 – ANTITRYPSIN DEFICIENCY UserName Password New Register Dr Ira Shah M.D, DCH(GoldMedalist), FCPS , DNB Q: What is alpha – l-antitrypsin ? A: Alpha –1- antitrypsin is a glycoprotein produced by the liver. Its primary function is to protect the lungs from neutrophil elastase, which is an enzyme that digests the phagocyte cells and bacteria to promote healing. However, it requires alpha-l – antitrypsin to prevent it from damaging the lung tissue. Alpha-l- antitrypsin is an acute- phase reactant. Its level increases to 3 or 4 times the normal amount at times of infection, pregnancy or any conditions that cause an increase in neutrophil elastase. Q: What happens where there is deficiency of alpha-l- antitrypsin?

52. Alpha-1 Antitrypsin Deficiency Research On Cutting Edge At National Jewish Medic Alpha1Antitrypsin (AAT) is a protein protecting the body The deficiency or absence of this protein is known as alpha-1 antitrypsin deficiency (Alpha-1). http://www.njc.org/news/antitrypsin.html

January 2001 Contact: William Allstetter allstetterw@njc.org Alpha-1 Antitrypsin Deficiency Research on Cutting Edge at National Jewish Medical and Research Center DENVER-A genetic lung disease affecting tens of thousands of mostly younger Americans is the subject of a study at National Jewish Medical and Research Center. Alpha1-Antitrypsin (AAT) is a protein protecting the body against an enzyme in the body’s own white blood cells that can damage the lungs. The deficiency or absence of this protein is known as Alpha-1 Antitrypsin Deficiency (Alpha-1). “Alpha-1 is a genetic disease that usually affects people in their thirties,” says Dr. Robert Sandhaus , M.D., Ph D., director of the Alpha-1 Clinic at National Jewish, and medical director and executive vice president of the Alpha One Foundation and AlphaNet. “They exhibit symptoms of older people who suffer from chronic obstructive pulmonary disease (COPD) and associated diseases like chronic bronchitis, emphysema and asthma.” Dr. Sandhaus explains that previous medical studies, performed on blood bank samples, had predicted an estimated 100,000 cases of Alpha-1 in the U.S. alone, yet only six percent have actually been identified. The difficulty in diagnosing Alpha-1 is that patients exhibit symptoms of respiratory diseases like COPD. “From the onset of the initial symptoms, anyone suffering from Alpha-1 will see an average of five doctors over a period of about seven years before receiving a correct diagnosis,” says Dr. Sandhaus. Individuals identified with Alpha-1 may be predisposed to any of the diseases listed above as well as chronic liver disease.

53. Alpha-1-Antitrypsin Deficiency alpha1 proteinase inhibitor is being tested (January 2001) by Aventis Pharmaceuticals of Kansas City, Mo., for the treatment of alpha1 antitrypsin deficiency- http://www.bchealthguide.org/kbase/nord/nord53.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord53"; var hwDocTitle="Alpha-1-Antitrypsin Deficiency"; var hwRank="1"; var hwSectionHWID="nord53"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Alpha-1-Antitrypsin Deficiency Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms A1AT Deficiency AAT AAT Deficiency Antitrypsin Deficiency Cholestasis, Neonatal Familial Chronic Obstructive Lung Disease Familial Emphysema Hereditary Emphysema Homozygous Alpha-1-Antitrypsin Deficiency PI Pi Phenotype ZZ, Z- and Protease Inhibitor Deficiency Serum Protease Inhibitor Deficiency Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Pulmonary Emphysema Respiratory Distress Syndrome, Adult

54. Genetic Disorders: Alpha-1 Antitrypsin Deficiency Understanding alpha1 antitrypsin deficiency. Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency. http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Al

Genetic Disorders: Alpha-1 Antitrypsin Deficiency Home Health Conditions and Diseases Genetic Disorders : Alpha-1 Antitrypsin Deficiency google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings Alpha 1 Association Organization which attempts to identify those affected by alpha-1-antitrypsin deficiency and to improve their quality of their lives through suppo... Alpha 1 Awareness Alliance A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports ... Alpha One Foundation Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency. Late Manifestation of Alpha-1-antitrypsin Deficiency in the Adult Literature review of late manifestations including hepatic decompensation and hepatocellular cancer in alpha-1-antitrypsin deficiency. MedicineNet An Alpha-1 antitrypsin deficiency article with details such as what it is, normal lungs and how they work, smoking, risk factors, how it is inheri...

55. The Federal Air Surgeon's Medical Bulletin, Summer 2002: An Airman With Alpha-1 An Airman with alpha1 antitrypsin deficiency. Case Report, by Luis A. Moreno, MD, and Alex M. Wolbrink, MD. alpha-1 antitrypsin deficiency. http://www.cami.jccbi.gov/AAM-400A/FASMB/FAS200202/alpha.htm

An Airman with Alpha-1 Antitrypsin Deficiency Case Report, by Luis A. Moreno, MD, and Alex M. Wolbrink, MD Alpha-1 antitrypsin deficiency, caused by a rare genetic defect, may manifest in adults as early-onset chronic obstructive pulmonary disease (COPD). Clinical suspicion for this disorder may be derived from history and physical examination alone and the diagnosis may be confirmed by appropriate testing. Confirmation of the diagnosis does not necessarily lead to revocation of medical certification, especially for those airmen who can demonstrate stable conditions. Background A 49-year-old, nonsmoker, Caucasian male with 725 total hours of flight time applied for renewal of his third-class FAA airman medical certificate. His medical history was significant for chronic obstructive pulmonary disease secondary to hereditary alpha-1 antitrypsin (AAT) deficiency (ZZ type). His outpatient management included daily bronchodilator therapy with ipratropuim bromide (Atrovent) and beclomethasone dipropionate (Beclovent), as well as biweekly intravenous AAT replacement therapy (Prolastin). On physical examination, distant sounds were not heard during lung auscultation and hepatomegaly was not evident from abdominal palpation. Inspection of the thorax, however, revealed a "slight increase" in anterior-posterior diameter of the chest. The remainder of the exam was described as unremarkable. The airman was initially diagnosed six years earlier with AAT deficiency. Mild dyspnea with exertion characterized his major symptom at the time of presentation. Clinically, the patient did not report worsening conditions since the time of diagnosis. However, his most recent pulmonary function tests (PFTs) indicated severe airway obstruction with hyperinflation. Diffusing capacity demonstrated a significant decrease compared with that from the previous two years (DLCO 70% vs. 55% of predicted). Although not significant, flow rates also revealed a decrease compared with that from the previous two years (FEV1/FVC ratio of 35% vs. 32% of predicted).

56. Alpha-1 Antitrypsin alpha1 antitrypsin deficiency (A1AD) is an autosomal recessive disorder marked by abnormally low or no serum levels of alpha-1 antitrypsin in the blood. http://www.brown.edu/Courses/Digital_Path/Liver/alpha_1_antitrypsin.htm

Alpha-1-antitrypsin deficiency General description A lpha-1 antitrypsin deficiency (A1AD) is an autosomal recessive disorder marked by abnormally low or no serum levels of alpha-1 antitrypsin in the blood. It is the most common genetic cause of liver disease in children and of emphysema in adults. Alpha-1 antitrypsin is a major protease inhibitor synthesized in the liver. It is involved in inhibition neutrophil elastase, a protease released by white blood cells at inflammatory sites. The deficiency of alpha-1 antitrypsin leads to tissue damage due to the body's inability to inhibit tissue-destructive enzymes. Incidence Approximately 1 in 2500 births. Symptoms Fatigue due to lung damage. Difficulty breathing. Jaundice (if liver is affected). May lead to hepatitis and cirrhosis. Pathophysiology Alpha-1 antitrypsin level rises sharply after tissue injury and inflammation. Genotype of normal alpha-1 antitrypsin is "MM"; person with MM genotype is not affected. Genotype of abnormal alpha-1 antitrypsin is "ZZ"; person with ZZ genotype is affected.

57. Department Of Medicine: Pulmonary & Critical Care alpha1 antitrypsin deficiency. Para Espanol presione aqui. alpha-1 antitrypsin deficiency (Alpha-1) is one of the most common serious http://www.med.miami.edu/med/pulmonarymed/alpha.asp

on error resume next If MSDetect = "true" Then If Not(IsObject(CreateObject("ShockwaveFlash.ShockwaveFlash"))) Then flashinstalled = 1 Else flashinstalled = 2 End If End If Wednesday, June 2, 2004 WELCOME FACULTY Faculty Profiles Affiliated Faculty PATIENT INFORMATION Appointment Information Asthma Interventional Bronchoscopy Smoking Cessation Information ... Clinical Trials RESEARCH Programs and Locations Clinical Trials FELLOWSHIPS Critical Care CALENDAR Return to the Division Selection Page SEARCH ALPHA-1 ANTITRYPSIN DEFICIENCY Para Espanol presione aqui Alpha-1 Antitrypsin Deficiency (Alpha-1) is one of the most common serious hereditary disorders in the world and can result in life-threatening lung or liver disease in children and adults. Alpha-1 can lead to lung destruction and is often misdiagnosed as asthma or smoking-related emphysema, chronic bronchitis or Chronic Obstructive Pulmonary Disease (COPD). Lung disease is the most frequent cause of disability and early death among affected persons and a major reason for lung transplantation. Alpha-1 can also lead to liver failure in childhood (a major cause of liver transplantation in children) and may cause progressive liver damage in adults. Our group includes both clinicians and scientists who have a special interest in the study and management of Alpha-1. We are collaborating in clinical trials with the Alpha-1 Foundation and have a special interest in studying why individuals with this disorder develop airway disease. Our strong commitment to care and research in Alpha-1 has established us as a referral center for patients suffering from this disease in South Florida.

58. University Of Miami School Of Medicine - Glossary - Alpha-1 Antitrypsin Deficien alpha1 antitrypsin deficiency. alpha-1 antitrypsin deficiency (A-1ATD). Smokers with alpha-1 antitrypsin deficiency have a faster rate of lung damage. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=278

59. Alpha-1 Antitrypsin Deficiency - Bayer Biologicals alpha1 antitrypsin deficiency. alpha-1 antitrypsin deficiency, also known as Alpha-1, is an inherited disorder that causes a significant http://www.bayerbiologicals.com/Products/Therapeutic/Proteinase/Alpha-1.asp

Alpha-1 Antitrypsin Deficiency Alpha-1 antitrypsin deficiency, also known as Alpha-1, is an inherited disorder that causes a significant reduction in the naturally occurring protein alpha-1 antitrypsin (AAT). Reduced levels of AAT result in the body being less able to protect itself from elastase, an enzyme in the white blood cells that normally helps to fight bacteria and that can cause damage to the air sacs in the lungs if not neutralized by AAT. AAT deficiency may predispose an individual to several serious illnesses, most commonly emphysema beginning in the third or fourth decade of life. Less frequently, AAT deficiency can result in liver disease, or a skin condition called panniculitis. It is believed that AAT deficiency affects as many as 200,000 people in the North America and Europe. AAT deficiency is most common among Caucasians of Northern European descent. It is estimated that as many as 95% of people with Alpha-1 have not been identified. Bayer Biological Products (BP) has worked over the past 15 years to provide the only available augmentation therapy for people with this deficiency. Our commitment to this community is demonstrated in our continued support of a number of organizations that serve the Alpha 1 community, and our support of patient identification programs. - BP Worldwide - Regional: BP Austria BP EU BP Germany BP Italy BP Spain BP USA Bayer Canada Bayer Japan Bayer Suisse Products: Bayer Albumin Bayer Direct Kogenate FS Prolastin Gamunex In The News Largest Randomized, Prospective Idiopathic [Immune] Thrombocytopenic Purpura (ITP) Study to Date Shows Gamunex®, Immune Globulin Intravenous (Human), 10% Caprylate/Chromatography Purified, Safe and Efficacious for Patients

60. Alpha-1 AntiTrypsin Deficiency degradation of aberrant protein. There are two clinical problems as a result of alpha1 antitrypsin deficiency Panacinar emphysema http://www.mcevoy.demon.co.uk/Medicine/Pathology/Genetics/a1AntiTDef.html

Alpha-1 Anti-Trypsin Deficiency Incidence Homozygotes about 1 in 3600. Aetiology Autosomal recessive enzyme deficiency. Alpha-1 anti-trypsin normally inhibits the action of collagenase, elastase and other proteases (including trypsin Heterozygotes have 60% of the normal enzyme levels. Homozygotes have 10% of the normal enzyme levels. Pathogenesis Alpha-1 antitrypsin is a protein synthesised in the liver and immediately secreted into the blood where it acts as an antiprotease (protease inhibitor Pi). There are several phenotypes : MM normal (90% population) MZ and MS are heterozygotes SS is a homozygote which reduces alpha-1 antitrypsin levels without clinical manifestations ZZ is a homozygote which produces a clinical deficiency a glu is changed to a lys decreased ability for normal protein folding accumulation of abnormal protein in hepatocytes increased lysosomal degradation of aberrant protein There are two clinical problems as a result of alpha-1 antitrypsin deficiency : Panacinar emphysema occurs earlier than in those without the deficiency both males and females are affected Hepatitis and Cirrhosis the unusual phenotypes of alpha-1 antitrypsin are not released readily from the liver and the unreleased protein then accumulates in the cytoplasm of periportal hepatocytes in the from of hyaline intracellular globules NB all PiZZ people accumulate abnormal protein but only up to 20% develop liver disease neonatal hepatitis with cholestatic jaundice adolescents get attacks of acute hepatitis

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