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Alfa1-antitrypsinmangel

Dette er en tilstand som øker risikoen for å utvikle lungesykdom (kols) og/eller leversykdom. Mangel på alfa1-antitrypsin kan avdekkes med en blodprøve.

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Del pasientinformasjon

Den ligger åpent tilgjengelig på NHI.no sammen annen relevant informasjon

https://nhi.no/sykdommer/lunger/kols/alfa1-antitrypsinmangel/ 

Hva er alfa1-antitrypsinmangel?

Årsak

Hvilke sykdommer kan oppstå?

Diagnostikk

Behandling

Prognose

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Referanser

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

  1. Strnad P, McElvaney NG, Lomas DA. Alpha1-Antitrypsin Deficiency. N Engl J Med. 2020;382(15):1443-1455. PubMed 
  2. 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 
  3. 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 
  4. Helsedirektoratet. Nasjonal faglig retningslinje. Kols - diagnostisering og behandling. Sist faglig oppdatert: 15. februar 2022. www.helsedirektoratet.no 
  5. Stoller JK. Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency. UpToDate, last updated Sep 13, 2022. UpToDate 
  6. 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 
  7. 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 
  8. Silverman EK, Sandhaus RA, Alpha-1-antitrypsin deficiency. N Engl J Med 2009;360: 2749-57. New England Journal of Medicine 
  9. 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
  10. Bjerring PN, Bojer D. Alfa1-antitrypsinmangel. Lægehåndbogen. Sist faglig oppdatert 15.11.2022.
  11. 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 
  12. Tanash HA, Ekström M, Rönmark E, Lindberg A, Piitulainen E. Survival in individuals with severe alpha 1-antitrypsin deficiency (PiZZ) in comparison to a general population with known smoking habits. Eur Respir J. 2017;50(3):1700198. Published 2017 Sep 9. PMID: 28889108 PubMed 
  13. 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 
  14. 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