RESUMO
BACKGROUND: To determine the activity of antithrombin (AT), protein C (PC), and protein S (PS), as well as the frequency of deficiencies of these proteins in a population of healthy Mexican mestizo blood donors. METHODS: AT, PC, and PS were determined from 1,502 plasma samples of healthy blood donors by using commercial kits in a coagulometer 4 STA (Diagnostica Stago, Asnières, France). RESULTS: A total of 741 women and 761 men were under study. They were divided into age range groups (18-24, 25-34, 35-44, 45-54, and 55-64 years). Activity of AT, PC, and PS was determined. For AT, activity values were specific for each age group according to gender when it had to do with PS, as well as when PC was determined. Frequencies of AT, PC, PS, and activated PC resistance activity deficiencies were obtained from reference levels (RLs) and average levels of this study. Differences were found between both frequencies for AT, PC, and PS, and the average levels obtained were used in this study. The frequencies of the activity deficiencies obtained through the values gotten in this population were: AT, 0.6%; PC, 1.06% (which is higher than the one obtained using the RLs described by commercial kits 0.33% and 0.66%, respectively); and PS, 1% (which is less than 4.5%). CONCLUSIONS: It is necessary to know the characteristics and biological behavior of the coagulation proteins in the Mexican population because the RLs used have been established for populations that are genetically different.
Assuntos
Transtornos da Coagulação Sanguínea/etnologia , Fatores de Coagulação Sanguínea/análise , Coagulação Sanguínea , Doadores de Sangue , Indígenas Norte-Americanos , Adolescente , Adulto , Deficiência de Antitrombina III/sangue , Deficiência de Antitrombina III/diagnóstico , Deficiência de Antitrombina III/etnologia , Proteínas Antitrombina/análise , Biomarcadores/sangue , Transtornos da Coagulação Sanguínea/sangue , Transtornos da Coagulação Sanguínea/diagnóstico , Testes de Coagulação Sanguínea , Feminino , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Proteína C/análise , Deficiência de Proteína C/sangue , Deficiência de Proteína C/diagnóstico , Deficiência de Proteína C/etnologia , Proteína S/análise , Deficiência de Proteína S/sangue , Deficiência de Proteína S/diagnóstico , Deficiência de Proteína S/etnologia , Adulto JovemRESUMO
Antithrombin (AT) is a heparin cofactor and a member of the serine protease inhibitor family (serpin). The mature AT molecule is composed of 432 amino acids and it is produced mainly in the liver. Initially, several different AT activities in plasma were reported, leading to the classification of antithrombin in a range from I to IV. It was subsequently shown that these various antithrombin activities were the function of one molecule, antithrombin III, whose name was reduced to antithrombin at the meeting of the International Society in Thrombosis and Haemostasis in 1993. AT is an important protease inhibitor of thrombin and factor Xa. However, AT is also able to inhibit factors IXa, XIa, XIIab, kallikrein, and plasmin. Given that AT is one of the major naturally occurring inhibitors of coagulation, acquired or hereditary deficiencies of this protein result in excessive thrombin generation. As a vast array of mutations are responsible for hereditary AT deficiencies, screening for their presence by DNA testing would require sequencing each entire gene involving numerous exons. Moreover, the knowledge of the gene mutation does not offer any benefit in the treatment of affected families, so the routine molecular characterization is not indicative. These defects are detected by functional or immunological assays. AT amidolytic assays are recommended for initial testing for AT deficiency. There is no need to routinely perform AT immunological assays. However, they are useful in order to distinguish type I from type II hereditary AT deficiency.
Assuntos
Deficiência de Antitrombina III/diagnóstico , Antitrombinas/sangue , Testes de Coagulação Sanguínea/métodos , Coagulação Sanguínea , Ensaio de Imunoadsorção Enzimática , Inibidores do Fator Xa , Heparina/metabolismo , Humanos , Trombina/antagonistas & inibidores , Trombofilia/diagnósticoRESUMO
Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. It can be primary or secondary to genetic syndromes such as Down syndrome. We report a seven year-old girl with a Down syndrome that presented with a disturbance of consciousness, seizures and a right hemiparesia at the age of five. Magnetic resonance imaging showed old cortical ischemic lesions in both cerebral hemispheres and a recent infarction in the territory of the left middle cerebral artery. Brain angiography showed a proximal stenosis of both medial cerebral arteries and a net of collateral vessels, consistent with the diagnosis of moyamoya syndrome. The patient had also an antithrombin III deficiency. Aspirin was indicated and a surgical correction was recommended. However, prior to the procedure, the patient had a new infarction in the territory of the right middle cerebral artery, which caused a severe disability.
Assuntos
Síndrome de Down/complicações , Doença de Moyamoya/diagnóstico , Deficiência de Antitrombina III/diagnóstico , Criança , Feminino , HumanosRESUMO
Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. It can be primary or secondary to genetic syndromes such as Down syndrome. We report a seven year-old girl with a Down syndrome that presented with a disturbance of consciousness, seizures and a right hemiparesia at the age of five. Magnetic resonance imaging showed old cortical ischemic lesions in both cerebral hemispheres and a recent infarction in the territory of the ¡eft middle cerebral artery. Brain angiography showed a proximal stenosis of both medial cerebral arteries and a net of collateral vessels, consistent with the diagnosis of moyamoya syndrome. The patient had also an antithrombin III deficiency. Aspirin was indicated and a surgical correction was recommended. However, prior to the procedure, the patient had a new infarction in the territory of the right middle cerebral artery, which caused a severe disability.
Assuntos
Criança , Feminino , Humanos , Síndrome de Down/complicações , Doença de Moyamoya/diagnóstico , Deficiência de Antitrombina III/diagnósticoRESUMO
Objetivo. Establecer la frecuencia de la deficiencia de la antitrombina III (Ant III), proteina C, proteina S y de la resistencia a la proteina C activadas (RPCA) en pacientes con trombosis venosa profunda (TVP). diseño. Estudio prospectivo descriptivo desde julio de 1995 a julio de 1997. Lugar. salas de medicina interna y consulta de anticoagulación del Hospital San Vicente de Paúl. Pacientes. Se estudiaron 17 pacientes menores de 45 años con TVP confirmada por dúplex o pletismografía venosa. Los criterios de exclusión fueron: ser mayor de 45 años, tener síndrome nefrótico o hepatopatía, o estar anticoagulado. Intervención. Se hizo medición cuantitativa de la antitrombina III (valor de referencia (VR): 88-131 por ciento), la proteina C (VR: 66-129 por ciento) y la proteina S (VR: 61.9-145.3 por ciento). La RPCA se determinó por la medición del tiempo de coagulación en el plasma en la respuesta a la proteina C activada. El APTT se determinó en presencia y ausencia de la proteina C activada. El resultado se expresó como una razón entre dos tiempos de coagulación (APTT/APTT2) y se consideró la presencia si dicha razón era menor o igual a 2. Resultados. La edad prometio fue de 32.05 años. El 70.5 por ciento fueron mujeres. La frecuencia de la deficiencia de la ant III y de la proteína C en 17 pacientes fue de 5.88 por ciento. En 16 pacientes la frecuencia de la deficiencia de la proteina S fue de 6.25 por ciento y de la RPCA 37.5 por ciento. Conclusiones. La RPCA fue la causa más comín de trombofilina en los pacientes estudiados. Las frecuencias de las deficiencias de estas proteínas y la RPCA concordaron con lo publicado en la literatura. En nuestro medio se deberian estudiar los pacientes para trombofilia heredada si la TVP ocurre en personasd menores de 45 años, especialmente la RPCA