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Alfa1-antitrypsinmangel: Diagnostikk

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Det viktigste er at legen din - gjerne med din hjelp - tenker på muligheten av at uforklarlige lunge- og mageplager kan skyldes alfa1-antitrypsinmangel. Ved tidlig debut av kronisk lungesykdom eller ved tegn på leversykdom (unormale blodprøver) bør legen rekvirere måling av alfa1-antitrypsin. En slik måling gjøres med en blodprøve. Ved funn av lave verdier anbefales det å få gjort en genprøve. Også dette er kun en blodprøve. Dersom genprøven viser at du har tilstanden, er det viktig at du får råd om hvordan du bør forholde deg.

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Dette dokumentet er basert på det profesjonelle dokumentet Alfa1-antitrypsinmangel . Referanselisten for dette dokumentet vises nedenfor

  1. Stoller JK, Aboussouan LS. Alfa1-antitrypsin deficiency. Lancet 2005; 365: 2225-36. PubMed
  2. Campos MA and Sandhaus R. Quality of life among patients with alpha-1 antitrypsin deficiency on augmentation therapy. Am J Respir Crit Care Med 2004; 169: A517. PubMed
  3. Stoller JK, Sandhaus RA, Turino GM, Dickson R, Rodger K, Strange C. Delay in diagnosis of alpha-1 antitrypsin deficiency: a continuing problem. Chest 2005; 128(4):1989-94. PubMed
  4. Carrell RW. What we owe to alfa1 antitrypsin and to Carl-Bertil Laurell. COPD 2004; 1: 71-84. PubMed
  5. Laurell C-B and Eriksson A. The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency. Scand J Clin Lab Invest 1963; 15: 132-40. PubMed
  6. Engelen MP, Schols AM, Baken WC, et al. Nutritional depletion in relation to respiratory and peripheral skeletal muscle function in out-patients with COPD. Eur Respir J 1994;7:1793-1797 PubMed
  7. Kols. Nasjonal faglig retningslinje og veileder for forebygging, diagnostisering og oppfølging. IS-2029N. Helsedirektoratet, 2012. helsedirektoratet.no
  8. Hogarth DK. Alpha-1 antitrypsin deficiency. BestPractice, last updated Aug 12, 2016.
  9. DeMeo DL and Silverman EK. Alpha 1-antitrypsin deficiency, 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004; 59: 259-64. PubMed
  10. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168: 818-900. PubMed
  11. Lomas DA and Mahadeva R. Alpha 1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 2002; 110: 1585-90. PubMed
  12. Stockley RA, Bayley DL, Unsal I and Dowson LJ. The effect of augmentation therapy on bronchial inflammation in alpha 1 antitrypsin deficiency. Am J Respir Crit Care Med 2002; 165: 1494-8. PubMed
  13. Stecenko AA and Brigham KL. Gene therapy progress and prospects: alpha-1 antitrypsin. Gene Ther 2003; 10: 95-9. PubMed
  14. Milger K, Holdt LM, Teupser D, et al. Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism. Int J Chron Obstruct Pulmon Dis 2015; 10: 891-7. pmid:26005342 PubMed
  15. McBean J, Sable A, Maude J and Robinson-Bostom L. Alpha 1-antitrypsin deficiency panniculitis. Cutis 2003; 71: 205-9. PubMed
  16. Tomashefski JF Jr, Crystal RG, Wiedemann HP, Mascha E and Stoller JK. The bronchopulmonary pathology of alpha-1 antitrypsin (AAT) deficiency: findings of the death review committee of the national registry for individuals with severe deficiency of alpha-1 antitrypsin. Hum Pathol 2004; 35: 1452-61. PubMed
  17. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. Global Initiative for Chronic Obstructive Lung Disease (GOLD). 2018 Report. Available from: http://goldcopd.org
  18. Stoller JK. Clinical practice: acute exacerbations of chronic obstructive pulmonary disease. N Engl J Med 2002; 346: 988-94. New England Journal of Medicine
  19. Sutherland ER and Cherniack RM. Management of chronic obstructive pulmonary disease. N Engl J Med 2004; 350: 2689-97. New England Journal of Medicine
  20. Gøtzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease. Cochrane Database Syst Rev 2016; 9:CD007851. The Cochrane Library
  21. Dawkins PA, Dowson LJ, Guest PJ and Stockley RA. Predictors of mortality in alpha 1-antitrypsin deficiency. Thorax 2003; 58: 1020-6. PubMed
  22. Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J 2012;19:109-116. PubMed
  23. Sorheim IC, Bakke P, Gulsvik A, et al. Alpha-1 antitrypsin protease inhibitor MZ heterozygosity is associated with airflow disruption in two large cohorts. Chest 2010; 138: 1125-1132. PubMed
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