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Alfa1-antitrypsinmangel

Sist revidert:
Sist revidert av:


Definisjon:
Autosomal ko-dominant sykdom der det er mangel på enzymet alfa-1 antitrypsin, noe som disponerer for lunge- og leversykdom
Forekomst:
Genfeilen forekommer hos 2,5%, men de færreste utvikler sykdom
Symptomer:
Sykdommen kan føre til økt bindevevsdannelse i lever og/eller lunge med resulterende kronisk leversykdom (cirrhose) og/eller kronisk obstruktiv lungesykdom (kols, emfysem)
Funn:
Kliniske funn forenlig med kols og/eller kronisk leversykdom
Diagnostikk:
Diagnosen bekreftes ved påvisning av nedsatt nivå av alfa-1 antitrypsin i blod og genotypene ZZ eller MZ
Behandling:
Det finnes foreløpig ingen kausal behandling, så kols og leversykdom behandles i tråd med retningslinjene for disse sykdommene
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  • Ingard Løge, spesialist i allmennmedisin, redaktør NEL

Tidligere fagmedarbeidere

  • Hermod Petersen, professor og overlege, Norges teknisk-naturvitenskapelige universitet og Medisinsk avdeling, Regionsykehuset i Trondheim
  • Eiliv Brenna, spesialist i gastroenterologi og overlege, Medisinsk avdeling, Regionsykehuset i Trondheim