Analbuminemia (a quantitative albumin variant).
Serum albumin accounts for over 50% of total serum protein and contributes to a significant extent to homeostasis through such crucial functionas as colloid osmotic pressure, transport, and nutrition. Analbuminemia was first described in 1954, but only 13 additional cases have since been reported. A further case, a 30-year-old Italian women, has been recently detected by the authors. Contrary to expectations, the large majority of analbuminemic subjects appear clinically well, the only consistent finding being a slight tendency to develop ankle edema. Asthenia and moderate hypotension have been recorded in several cases. Although associated disease conditions have been described in isolated instances, no clear-cut connections have been established with the analbuminemic state. Laboratory features include increased circulating levels of cholesterol, beta-lipoproteins and esterified fatty acids, as well as elevation of acute phase reactants and immunoglobulins. Albumin turnover studies have usually shown that both mechanisms of albumin synthesis and catabolism may be impaired in these subjects. Consanguinity of the percentage is a common feature and transmission as an autosomal recessive trait has been suggested. Thus, analbuminemia appears as an exceptional 'experiment of Nature', in that it challenges the vital role of circulating albumin.
D001247:Asthenia / Q000235:genetics*; D004487:Edema / Q000235:genetics*; D004586:Electrophoresis; D005260:Female; D006801:Humans; D007022:Hypotension / Q000235:genetics*; D005779:Immunodiffusion; D010641:Phenotype; D012709:Serum Albumin / Q000172:deficiency* / Q000378:metabolism; D013577:Syndrome
D012709:Serum Albumin