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Cystisk fibrose

Sist revidert:
Sist revidert av:

Definisjon:
Autosomal, recessiv arvelig lidelse. Defekt i cystisk fibrose transmembran regulator proteinet (CFTR) som påvirker eksokrine kjertler (typisk i luftveier og mage-tarmsystemet)
Forekomst:
Forekommer ved 1 av 5000 fødsler. Ca 1 av 30 er bærere av cystisk fibrose genet
Symptomer:
Mekonium ileus, kroniske lunge- og bihuleplager, svekket pankreasfunksjon og kronisk underernæring
Funn:
Kan være clubbing, økt anteroposterior diameter av thorax, hyperresonans ved perkusjon, utbredte knatrelyder, malabsorbsjonsfunn (svinn av subkutant fett, slunkne nates)
Diagnostikk:
Relevante tilleggsundersøkelser er svetteionoforese, elastase-1 i avføring, genetisk testing
Behandling:
Tverrfaglig behandling med fokus på lungefunksjon og ernæring. Regelmessig antibiotikabehandling. Genetisk terapi under utprøving
  • Nasjonal behandlingstjeneste for organtransplantasjon, Oslo universitetssykehus HF, nettsted 
  • Nasjonal kompetanse­tjeneste for hjemmerespirator­behandling - NKH - nettsted 
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  • Ingard Løge, spesialist allmennmedisin, redaktør NEL

Tidligere fagmedarbeidere

  • Hasse Melbye, spesialist i allmennmedisin, førsteamanuensis ved institutt for samfunnsmedisin, Universitetet i Tromsø
  • Roald Bolle, overlege og 1. amanuensis, barneavdelingen, Regionsykehuset og Universitetet i Tromsø