Hur kan man leva utan albumin? Några fall av analbuminemi väcker patofysiologiska frågor
Engelsk titel: How is it possible to live without albumin? Several cases of analbuminemia raise physiopathological questions
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Författare:
Hansson P
;
Lyon A
Email: per.yp.hansson@vgregion.se
Språk: Swe
Antal referenser: 12
Dokumenttyp:
Fallbeskrivning
UI-nummer: 08061220
Sammanfattning
We describe one Swedish and four Canadian cases of total analbuminemia. This is an enigmatic trait, mainly because those affected appear in good health despite having such an extreme deviation from biochemical normality. Severe hypercholesterolemia is an obligatory finding, but may not be accompanied by atherosclerosis to a considerable degree. Some persons develop a therapy-resistant obesity confined to the lower body. The albumin gene and several mutations causing analbuminemia have been characterised in detail. However, our understanding of the pathophysiology of analbuminemia is still far from complete.