RESUMO
A small-for-gestational-age infant, found to have analbuminemia in the neonatal period, is reported and the twelve cases recorded in the world literature are reviewed. Patients lacking this serum protein are essentially asymptomatic, apart from minimal ankle edema and ease of fatigue. Apparent compensatory mechanisms which come into play when serum albumin is low include prolonged half-life of albumin and transferrin, an increase in serum globulins, beta lipoprotein, and glycoproteins, arterial hypotension with reduced capillary hydrostatic pressure, and the ability to respond with rapid sodium and chloride diuresis in response to small volume changes. Examination of plasma amino acids, an investigation not previously reported, revealed an extremely low plasma tryptophan level, a finding which may be important in view of the role of tryptophan in albumin synthesis.
Assuntos
Transtornos das Proteínas Sanguíneas/congênito , Proteínas de Transporte/deficiência , Doenças do Recém-Nascido , Albumina Sérica/deficiência , Análise Química do Sangue , Aberrações Cromossômicas , Transtornos Cromossômicos , Feminino , Genes Recessivos , Humanos , Imunoeletroforese , Lactente , Recém-Nascido , Lipídeos/sangue , Masculino , Albumina Sérica/análise , Fatores de TempoAssuntos
Transtornos das Proteínas Sanguíneas/genética , Doenças do Recém-Nascido , Cirrose Hepática/genética , Fenótipo , Inibidores da Tripsina/sangue , Autopsia , Transtornos das Proteínas Sanguíneas/congênito , Proteínas Sanguíneas/análise , Eletroforese em Gel de Amido , Feminino , Imunofluorescência , Humanos , Imunodifusão , Recém-Nascido , Fígado/patologia , Cirrose Hepática/patologia , MasculinoRESUMO
A dysfibrinogenemia (fibrinogen Bethesda) was detected in a 9 yr old male of Mexican-English extraction who had a lifelong history of mild bleeding diathesis. The prothrombin and partial thromboplastin times were moderately prolonged; the thrombin and Reptilase times were markedly prolonged. The plasma fibrinogen level was normal by conventional methods but was markedly reduced by the Clauss method. Results of all other tests for clotting factors, fibrinolysis, antithrombin levels, clot stabilization, and fibrin(ogen) degradation products were normal. The patient's plasma and fibrinogen inhibited the clotting of normal plasma or fibrinogen by thrombin. Family studies revealed that the propositus' mother and two siblings exhibited these abnormalities to a lesser degree and indicated an autosomal dominant inheritance. Fibrinogen Bethesda was similar to normal fibrinogen in the following respects: metabolic turnover time (measured in the propositus' mother); immunodiffusion, ultracentrifugal, electrophoretic (on cellulose acetate or polyacrylamide gel), and chromatographic (on DEAE-cellulose) characteristics; sialic acid content; and aggregation of fibrin monomers. By contrast, fibrinogen Bethesda gave an abnormal immunoelectrophoretic pattern especially when whole plasma (as opposed to purified fibrinogen) was examined, and it showed a pronounced decrease in the rate of fibrinopeptide release by thrombin. This decrease, which was shown to involve both fibrinopeptides A and B, distinguishes fibrinogen Bethesda from previously reported dysfibrinogenemias.