Analbuminemia: report of a case and review of the literature.
Idiopathic analbuminemia was fortuitously detected in a 30-year-old Italian woman. No associated disease condition could be revealed in this patient, the only consistent finding being a slight tendency to develop ankle edema. Asthenia and a moderate hypotension were also recorded. Trace amounts (5.2 mg/100 ml) of serum albumin were determined by immunochemical methods. Laboratory features also included increased circulating levels of cholesterol and beta-lipoproteins, as well as elevation of acute phase reactants and immunoglobulins. Albumin turnover studies showed low albumin synthesis and abnormally slow albumin degradation rate. No consanguinity of the percentage could be traced in this patient and an autosomal recessive transmission of the trait was suggested. An extensive review of the literature disclosed 19 additional cases of this rare condition, their occurrence actually challenging the vital role of albumin in man. Compensatory mechanisms certainly play a role but are only partially understood.
D000328:Adult; D004487:Edema / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics
D012709:Serum Albumin