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Topic: Alpha 1 antitrypsin


  
  Alpha 1-Antitrypsin Deficiency - WrongDiagnosis.com
Alpha 1-Antitrypsin Deficiency: A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children.
Alpha 1-Antitrypsin Deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Alpha 1-Antitrypsin Deficiency, or a subtype of Alpha 1-Antitrypsin Deficiency, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /a/alpha_1_antitrypsin_deficiency/intro.htm   (608 words)

  
  Alpha 1-antitrypsin deficiency   (Site not responding. Last check: )
Alpha 1-antitrypsin deficiency is an inherited disease which affects the liver and lungs.
Alpha 1 antitrypsin deficiency is a genetic or inherited disease.
The liver disease associated with alpha 1-antitrypsin deficiency is commonly hepatitis, presenting with jaundice (yellowing of the skin and eyes) and abdominal pain, potentially leading to cirrhosis in 10-15% of patients.
www.virtualgastrocentre.com /diseases.asp?catid=&did=170   (1135 words)

  
  Alpha 1-antitrypsin - Biocrawler   (Site not responding. Last check: )
Disorders of the enzyme include alpha 1-antitrypsin deficiency, a hereditary disorder in which lack of alpha 1-antitrypsin leads to uninhibited tissue breakdown during inflammation.
Alpha 1-antitrypsin is the main enzyme of the alpha-globulin 1 region.
Alpha 1-antitrypsin levels depend on the phenotype, as deviant forms are excreted inefficiently by the liver and polymerise in the endoplasmic reticulum:
www.biocrawler.com /encyclopedia/Alpha_1-antitrypsin   (662 words)

  
 Alpha-1 antitrypsin Information on Healthline
The inheritance of alpha-1 antitrypsin is autosomal recessive.
Although the inheritance of alpha-1 antitrypsin is autosomal recessive, the activity of the protein is equally determined by the gene inherited from either parent.
The gene for alpha-1 antitrypsin is on chromosome 14.
www.healthline.com /galecontent/alpha-1-antitrypsin-1/Email   (837 words)

  
 alpha -1 - antitrypsin deficiency - General Practice Notebook   (Site not responding. Last check: )
Alpha-1 antitrypsin is a member of the serine protease inhibitor family of plasma proteins.
Alpha-1 antitrypsin has a wide spectrum of antiprotease activity, however, its important physiological role is the inhibition of neutrophil elastase.
Alpha-1 antitrypsin is primarily synthesised in the liver and normally constitutes about 90% of the circulating blood alpha-1 globulin.
www.gpnotebook.co.uk /cache/-1019936768.htm   (140 words)

  
 Best cure for complicated antiphospholipid syndrome and pregnancy with unique natural blends - DrRaoMD
Alpha-1 antitrypsin is one of a family of proteins with similar functions known as the serine proteinase inhibitor (or serpin) superfamily.
Alpha-1 antitrypsin deficiency is an inherited condition caused by a defective gene on chromosome 14.
Alpha-1 antitrypsin deficiency causes emphysema, a chronic progressive lung disease caused by destruction of lung tissue and permanent abnormal enlargement of airspaces.
www.drraomd.com /diseaseindex/a_alpha1antitrypsindeficiency.htm   (922 words)

  
 types of alpha-1 antitrypsin, emphysema, alpha-1 antitrypsin deficiency
The main function of the alpha-1 antitrypsin protein is to neutralize another protein (or enzyme) called neutrophil elastase, which is normally contained within one type of white blood corpuscle called the polymorphonuclear leukocyte, or PMN for short.
Under normal conditions, neutrophil elastase is inactivated by alpha 1-antitrypsin, but in conditions of excessive infection or inflammation when the burden of neutrophil elastase is high, or under conditions of alpha-1 antitrypsin deficiency, when the alpha-1 antitrypsin protective screen is depleted, unopposed action of neutrophil elastase can allow elastin breakdown and resultant emphysema.
Although several different mechanisms can cause alpha 1 deficiency, the commonest type of deficiency (called the ZZ type) is due to the liver cell’s inability to secrete the protein, which congeals within the liver cell.
cms.clevelandclinic.org /ccfpulmonary/body.cfm?id=215   (910 words)

  
 Alpha-1 antitrypsin: Encyclopedia of Genetic Disorders
Alpha-1 antitrypsin is one of the most common inherited diseases in the Caucasian population.
The disease is caused by a deficiency in the protein alpha-1 antitrypsin, which is why the condition is sometimes called alpha-1 antitrypsin deficiency.
The protein alpha-1 antitrypsin is a protease inhibitor, which means that it inactivates other...
health.enotes.com /genetic-disorders-encyclopedia/alpha-1-antitrypsin   (131 words)

  
 Defect in alpha-1 antitrypsin gene found to increase colorectal cancer risk
The genetic defect, alpha-1 antitrypsin deficiency, presents an inadequate level of the protease inhibitor alpha-1 antitrypsin, which protects the surfaces of multiple organs.
The relative risk of developing colorectal cancer demonstrating microsatellite instability, a nonhereditary type of colorectal cancer, was 3.1 for alpha-1 antitrypsin deficiency carriers; among current and past smokers who were not carriers, the risk of developing this type of colorectal cancer was 6.6 and 2.7, respectively.
Since alpha-1 antitrypsin deficiency previously has been associated with emphysema, the investigators suggest those with severe, early-onset emphysema in their families inquire of their physicians regarding their potential carrier status for alpha-1 antitrypsin deficiency.
www.eurekalert.org /pub_releases/2001-01/MC-Diaa-0201101.php   (436 words)

  
 Alpha-1-Antitrypsin Deficiency
Alpha 1-antitrypsin deficiency is a genetic disorder commonly associated with pulmonary and hepatic injury.
A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.
Alpha 1-Antitrypsin deficiency predisposes to pulmonary emphysema, liver cirrhosis and hepatocellular carcinoma.
www.thedoctorsdoctor.com /diseases/a1at_deficiency.htm   (13359 words)

  
 ALPHA-1 - ANTITRYPSIN DEFICIENCY   (Site not responding. Last check: )
Gastroenterology Consultants, PC Alpha-1 - antitrypsin deficiency is a hereditary disease that may lead to hepatitis and cirrhosis.
The protein alpha-1 - antitrypsin is a substance made in the liver.
It may also appear in late childhood or adulthood and be detected because of fatigue, poor appetite, swelling of the abdomen and legs or abnormal liver tests.
www.gastro.com /html/liverdisease/antitrypsin_deficiency.shtml   (530 words)

  
 Alpha 1 Antitrypsin Disorder
Antitrypsin is produced within the cells of the liver.
Alpha 1 Antitrypsin Disorder/Deficiency is caused by having two of the defective genes (Phenotype ZZ).
The Alpha1 Research Registry even has a "finger stick" Alpha 1 Test Kit that they will mail to you FREE, screen for FREE and notify your doctor if further testing is required for FREE.
www.geocities.com /kens_a1ad   (989 words)

  
 Diagnosing alpha(1)-antitrypsin deficiency Nurse Practitioner - Find Articles
Alphas antitrypsin deficiency is a genetically transmitted disorder associated with an increased risk of emphysema and liver disease.
The majority of persons with alphas-AT deficiency are misdiagnosed or undiagnosed.' A high index of suspicion is needed when significant emphysema occurs in patients under age 60, even when there is a significant smoking history.
Alpha,-AT inhibits the action of proteolytic enzymes; its primary target is neutrophil elastase.
www.findarticles.com /p/articles/mi_qa3958/is_200101/ai_n8943619   (518 words)

  
 Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency is an inherited disease with variable clinical expression, initially described in patients affected with pulmonary emphysema.
Alpha-1 antitrypsin is a glycoprotein encoded by a gene located on chromosome 14.
Alpha-1 antitrypsin is a plasma protein with antielastase activity.
www.orpha.net /static/GB/alpha1_antitrypsin_deficiency.html   (192 words)

  
 MedlinePlus: 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.
Alpha-1 antitrypsin (AAT) is a protein that protects the lungs.
Article: Alpha one antitrypsin deficiency: from gene to treatment.
www.nlm.nih.gov /medlineplus/alpha1antitrypsindeficiency.html   (280 words)

  
 Alpha-1 Antitrypsin Deficiency (AATD), Cincinnati Children's Hospital Medical Center
Alpha-1 antitrypsin deficiency (AATD) is a common, serious disease that is passed down from parents to children.
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.
Alpha-1 antitrypsin's job is to protect tissues in the body from being digested by enzymes released from inflammatory cells.
www.cincinnatichildrens.org /svc/alpha/l/liver/diseases/alpha-1-antitrypsin.htm   (943 words)

  
 Essay Samples about alpha 1 antitrypsin
Alpha-1 antitrypsin deficiency is the most common genetic cause of liver disease children and of emphysema in adults.
Alpha-1 antitrypsin is a protease (a digestive enzyme that causes the breakdown of protein) inhibitor (PI), genotype MM, which protects tissues from the effects of neutrophil (a type of white blood cell which can ingest and kill bacteria.
Alpha-1 antitrypsin deficiency is genetic and it is passed onto children by their parents.
www.essaysamples.net /show_essay/48538.html   (322 words)

  
 ALPHA-1 ANTITRYPSIN DEFICIENCY Pediatric Oncall   (Site not responding. Last check: )
A: In alpha —l deficient persons there is insufficient amount of alpha-1 antitrypsin circulating in the blood, hence the destructive effect of neutrophil elastase goes unchecked and lung tissue is destroyed causing emphysema, asthma, chronic bronchitis and repeated chest infections.
In some patients, alpha —1- antitrypsin may be produced normally, however the liver may not secrete the protein into the blood.
Since alpha-1 antitrypsin is the predominant glycoprotein responsible for the a 1 globulin band on routine protein electrophoresis, that band is absent in its deficiency.
www.pediatriconcall.com /fordoctor/diseasesandcondition/alpha1deficiency.asp   (1297 words)

  
 Alpha-1-antitrypsin deficiency   (Site not responding. Last check: )
Alpha-1 antitrypsin deficiency (also referred to as Alpha-1) is caused by mutations in the SERPINA1 gene on chromosome 14.
Neutrophil elastase is produced by white blood cells in response to infection or irritants to digest damaged tissue in the lungs.
Alpha-1 antitrypsin deficiency is often misdiagnosed because its symptoms look a lot like the symptoms of asthma, bronchitis, or smoking-induced emphysema.
learn.genetics.utah.edu /units/disorders/whataregd/a1ad   (588 words)

  
 Alpha 2 Alpha: Alpha-1 Antitrypsin Deficiency Resistance Exercise for Health/Rehabilitation
Alpha 2 Alpha: Alpha-1 Antitrypsin Deficiency Resistance Exercise for Health/Rehabilitation
For example, Alpha-1 Antitrypsin Deficiency causes a decrease in lung function and a decrease in physical activity.
Resistance exercise is safe and may be well suited for a lung patient because of the low demand on the lungs and the possibility of long rest periods between sets.
www.alpha2alpha.net /ResistanceExercise.htm   (2148 words)

  
 Alpha-1 Advocacy Alliance - What is Alpha-1 Antitrypsin Deficiency...
Alpha-1 antitrypsin is a protein produced by the liver to protect the human body from damage caused by neutrophil elastase.
Alpha-1 Antitrypsin Deficiency, referred to as AAT Deficiency or Alpha-1, is an inherited disorder which results in low, or no levels of a substance in the blood called alpha-1 antitrypsin (AAT).
Alpha-1 Antitrypsin Deficiency is a hereditary defect that causes neo-natal cirrhosis in children and early onset emphysema in adults, usually in the third or forth decade of life.
www.alpha1advocacy.org /wialpha.html   (726 words)

  
 Alpha-1 antitrypsin deficiency - Genetics Home Reference
In rare cases, alpha-1 antitrypsin deficiency also causes a skin condition known as panniculitis, which is characterized by hardened skin with painful lumps or patches.
For example, in Scandinavia this disorder affects 1 in 1,500 to 3,000 individuals, but it is less common in Asian and fl populations.
Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency.
ghr.nlm.nih.gov /condition=alpha1antitrypsindeficiency   (888 words)

  
 Alpha-1 Antitrypsin: The Test
An alpha-1 antitrypsin concentration is ordered to help diagnose the cause of early onset emphysema, especially when a person does not have obvious risk factors such as smoking or exposure to lung irritants such as dust and fumes.
Alpha-1 antitrypsin is also ordered to help diagnose the cause of persistent jaundice and other signs of liver dysfunction.
Alpha-1 antitrypsin testing may be ordered when a newborn or infant has jaundice that lasts for an extended period of time (more than a week or two), an enlarged spleen, ascites (fluid accumulation in the abdominal cavity), pruritus (itching), and other signs of liver injury.
www.labtestsonline.org /understanding/analytes/alpha1_antitrypsin/test.html   (751 words)

  
 Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency is thought to be one of the commonest genetic deficiencies in Caucasian (or white) populations.
Alpha-1 antitrypsin deficiency occurs in up to 1 in 1600 people in Scandinavia but is less common elsewhere.
However, alpha-1 antitrypsin deficiency is relatively easy to detect by testing the blood alpha-1 antitrypsin levels.
www.netdoctor.co.uk /diseases/facts/alpha1def.htm   (1942 words)

  
 Alpha 1-antitrypsin Deficiency - New Treatments, January 2, 2007   (Site not responding. Last check: )
The most common metabolic cause of chronic liver disease in children is alpha 1-antitrypsin deficiency.
These children may have presented in infancy with a high bilirubin which completely went away, the diagnosis may never have been made until they come into your office or in to the hospital in childhood and they’ve already developed.
Sometimes the cirrhosis is fully established and portal hypertension with a non-jaundiced child with a big spleen and may be vomiting blood in the emergency room, is the first sign that this child had alpha 1-antitrypsin deficiency all along.
www.ccspublishing.com /journals5a/alpha_1_antitrypsin_deficiency.htm   (514 words)

  
 Understanding Alpha-1 Antitrypsin Deficiency   (Site not responding. Last check: )
Alpha-1 antitrypsin deficiency is an inherited (passed down from parents) disorder that causes low levels of, or no alpha-1 antitrypsin in the blood.
In normal lungs, alpha-1 antitrypsin protects the lungs from the harmful effects of neutrophil elastase.
Alpha-1 antitrypsin deficiency is not contagious, and you cannot "catch it" from someone.
www.clevelandclinic.org /health/health-info/docs/1100/1138.asp?index=5731   (837 words)

  
 About Us : Alpha-1 Foundation
The Alpha-1 Foundation is a not-for-profit Florida corporation founded in 1995 by John Walsh, Susan Stanley and Sandy Lindsey, three individuals diagnosed with Alpha-1 Antitrypsin Deficiency (AAT Deficiency or Alpha-1).
Under his leadership, the organization has become internationally recognized and has invested nearly $31 million to support Alpha-1 Antitrypsin research and programs in 60 institutions in North America and Europe.
Walsh was diagnosed with Alpha-1 Antitrypsin Deficiency, in 1989.
www.alphaone.org /about   (376 words)

  
 Alpha-1 Related Emphysema - American Lung Association site
In normal and healthy individuals, AAT protects the lungs from natural enzymes such as neutrophil elastase.  Neutrophil elastase is an enzyme that normally serves a useful purpose in lung tissue -- it digests damaged or aging cells and bacteria in order to provide for healing.
People who have Alpha-1 antitrypsin deficiency will pass on one abnormal gene to their children, who will become "carriers" and will not have Alpha-1 unless they receive another abnormal gene from their other parent.
Emphysema begins with the destruction of alveoli, small sac-like structures (resembling bunches of grapes) in the lungs where oxygen from the air is exchanged for carbon dioxide in the blood.
www.lungusa.org /site/pp.asp?c=dvLUK9O0E&b=35014   (1255 words)

  
 Alpha-1 Antitrypsin Deficiency - Alpha One - Alpha 1 Antitrypsin Disease
Alpha-1 Antitrypsin Deficiency - Alpha One - Alpha 1 Antitrypsin Disease
Alpha-1 Antitrypsin Deficiency Association - Alpha-1 Association's mission is to identify those affected by Alpha-1 Antitrypsin Deficiency and to improve the quality of their lives through suppot, advocacy and research.
Alpha One Foundation - Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency.
www.iseekhealth.com /conditions-and-diseases/alpha-1-antitrypsin-deficiency-2543.htm   (156 words)

  
 ArtDeadline.Com ArtNet Search Engine
Alpha 1 Awareness Alliance - A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency.
Alpha-1 Antitrypsin Deficiency Association - Non-profit organization offering information and support to patients, caregivers, and families effected by this disease.
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.
www.artdeadline.com /cgi-bin/anacondaodp.pl?passurl=/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency   (263 words)

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