RESUMEN
OBJECTIVE: To clarify the incidence and genetic risk of neonatal-thromboembolism, we conducted a nationwide study exploring the impact of thrombophilia on neonatal-thromboembolism in Japan. STUDY DESIGN: A questionnaire survey was conducted for perinatal centers in Japan, focusing on the clinical expression, genotype, treatment, and outcome of patients who developed thromboembolism within 28 days of birth from 2014 to 2018. RESULTS: The estimated incidence of neonatal-thromboembolism was 0.39 cases per 10 000 live births. Intracranial lesions and purpura fulminans occurred in 66 and 5 of 77 patients, respectively. Fifty-eight (75.3%) infants presented within 3 days after birth. Four (5.2%) died, and 14 (18.2%) survived with disability. At the diagnosis, <20% plasma activity of protein C was noted in 16 infants, protein S (in 2), and antithrombin (in 1). Thirteen genetic tests identified 4 biallelic and 5 monoallelic protein C-variants but no protein S- or antithrombin-variants. Protein C-variants had purpura fulminans (P < .01), ocular bleeding (P < .01), positive-family history (P = .01), and death or disability (P = .03) more frequently than others. Protein C-variants were independently associated with disability (OR 5.74, 95% CI 1.16-28.4, P = .03) but not death. Four biallelic variants had serious thrombotic complications of neurologic disability, blindness, and/or amputation. Three monoallelic variants survived without complications. The only protein C-variant death was an extremely preterm heterozygote infant. CONCLUSIONS: Monoallelic protein C-variants had a higher incidence of neonatal-thromboembolism than biallelic variants. Thrombophilia genetic testing should be performed in the setting of neonatal-thromboembolism and low protein C to identify the underlying genetic defect.
Asunto(s)
Deficiencia de Proteína C/complicaciones , Tromboembolia/epidemiología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Recién Nacido , Japón , Masculino , Deficiencia de Proteína C/genética , Estudios Retrospectivos , Factores de Riesgo , Encuestas y Cuestionarios , Tromboembolia/genéticaAsunto(s)
Insuficiencia de Crecimiento/complicaciones , Deficiencia de Proteína C/complicaciones , Taquipnea/complicaciones , Femenino , Humanos , Hipoxia/terapia , Lactante , Fórmulas Infantiles , Oxígeno/metabolismo , Oxígeno/uso terapéutico , Neumonía , Deficiencia de Proteína C/genética , Tensoactivos/metabolismo , Tomografía Computarizada por Rayos X , Pérdida de PesoRESUMEN
Uno de los trastornos hematológicos más graves del período neonatal es la deficiencia congénita de proteína C, de presentación muy rara, y causa de enfermedad tromboembólica severa y púrpura fulminante en recién nacidos. Se puede sintetizar como una entidad clínico-patológica, de aparición aguda, con trombosis de la vasculatura de la dermis, lo cual conduce a necrosis hemorrágica y progresiva de la piel, asociada a coagulación intravascular diseminada y hemorragia perivascular, que ocurre en el período neonatal. El paciente presentado exhibe los elementos clínico-patológicos que caracterizan la púrpura fulminante, cuyo origen se debe a una deficiencia hereditaria de proteína C, lo cual condujo a la aparición de complicaciones trombóticas severas(AU)
One of the most serious hematological disorders of the neonatal period is congenital C protein deficiency of very rare occurrence and the main cause of severe thromboembolic disease and purpura fulminans in newborns. It may be summarized as a clinical and pathological entity of acute occurrence, with dermis vasculature thrombosis that leads to progressive hemorrhagic necrosis of the skin, associated to disseminate intravascular coagulation and perivascular hemorrhage in the neonatal period. The patient of this report showed the clinical and pathological elements characterizing purpura fulminans the origin of which is due to hereditary C protein deficiency that led to onset of severe thrombotic complications in this patient(AU)
Asunto(s)
Humanos , Femenino , Recién Nacido , Coagulación Intravascular Diseminada/complicaciones , Púrpura Fulminante/etiología , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/congénitoRESUMEN
Portal vein thrombosis is considered a vaso-occlusive process that can appear during the course of hepatosplenic Schistosoma mansoni, but may result from impaired portal blood flow or be associated with acquired or inherited thrombophilic factors. Here, we report the case of a 67-year-old woman who developed thrombocytopenia as a result of hypersplenism. Following the diagnosis of hepatosplenic schistosomiasis, portal vein thrombosis was detected by ultrasound examination, while haematological tests revealed low levels of protein C (43.3%) and high levels of factor VIII (183.1%). The pathogenesis of portal vein thrombosis remains unclear in some patients with S. mansoni. We recommend, therefore, that early clinical and haemostatic investigations are done to evaluate risk of portal vein thrombosis and hence avoid further complications.
Asunto(s)
Deficiencia de Proteína C/diagnóstico , Esquistosomiasis/diagnóstico , Esplenomegalia/diagnóstico , Trombocitopenia/diagnóstico , Trombosis de la Vena/diagnóstico , Anciano , Animales , Factor VIII/metabolismo , Femenino , Expresión Génica , Hemostasis , Humanos , Hígado/metabolismo , Hígado/parasitología , Hígado/patología , Vena Porta/metabolismo , Vena Porta/parasitología , Vena Porta/patología , Proteína C/metabolismo , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/parasitología , Schistosoma mansoni/patogenicidad , Schistosoma mansoni/fisiología , Esquistosomiasis/sangre , Esquistosomiasis/complicaciones , Esquistosomiasis/parasitología , Bazo/metabolismo , Bazo/parasitología , Bazo/patología , Esplenomegalia/sangre , Esplenomegalia/complicaciones , Esplenomegalia/parasitología , Trombocitopenia/sangre , Trombocitopenia/complicaciones , Trombocitopenia/parasitología , Trombosis de la Vena/sangre , Trombosis de la Vena/complicaciones , Trombosis de la Vena/parasitologíaRESUMEN
Desde hace varios siglos se conoce que los defectos de la coagulación causan enfermedades hemorrágicas, pero el estudio de su contraparte, las enfermedades trombóticas, se ha desarrollado con mayor profundidad hace solo algunas décadas. Son estos trastornos del sistema de la coagulación los que constituyen una de las causas más comunes de muerte en el mundo de hoy donde cada año mueren alrededor de 2 millones de personas por trombosis, ya sea arterial o venosa. Además, se consideran una fuente importante de morbilidad en las personas que las padecen y sobreviven. Los estados de hipercoagulabilidad o trombofilias son condiciones clínicas que afectan a una serie de pacientes con tendencia anormal a presentar eventos trombóticos. La deficiencia de proteína C (PC) y proteína S (PS) constituyen causas de trombofilias congénitas o adquiridas que predisponen a la aparición de trastornos tromboembólicos, pérdidas recurrentes de embarazos, trombosis venosas recurrentes, entre otros. Su diagnóstico es de gran importancia porque permite realizar profilaxis para evitar el riesgo de recurrencia e informa sobre la posibilidad de un estado de portador en cualquier otro miembro de la familia(AU)
For several centuries it has been known that coagulation defects cause hemorrhagic disease, but the study of its counterpart, thrombotic diseases, has been developed in more depth just a few decades ago. These disorders of coagulation system are one of the most common causes of death in the world today, where about two million people die every year from thrombosis, either arterial or venous. They are also considered an important source of morbidity in people who suffer it and survive. Hypercoagulable state or thrombophilia are clinical conditions that affect a number of patients with abnormal tendency to thrombotic events. Deficiency of protein C (PC) and protein S (PS) are causes of congenital or acquired thrombophilias that predispose to thromboembolic disorders, recurrent pregnancy loss, recurrent venous thrombosis, among others. Its diagnosis is very important it provides tools for its prophylaxis in order to reduce the risk of recurrence and the possibility of identify a carrier state in any other family member(AU)
Asunto(s)
Trombofilia/complicaciones , Trombofilia/etiología , Deficiencia de Proteína C/sangre , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína S/sangre , Deficiencia de Proteína S/complicaciones , Salud de la Familia/estadística & datos numéricos , Estudios de Casos y Controles , Pruebas Genéticas/métodosRESUMEN
Desde hace varios siglos se conoce que los defectos de la coagulación causan enfermedades hemorrágicas, pero el estudio de su contraparte, las enfermedades trombóticas, se ha desarrollado con mayor profundidad hace solo algunas décadas. Son estos trastornos del sistema de la coagulación los que constituyen una de las causas más comunes de muerte en el mundo de hoy donde cada año mueren alrededor de 2 millones de personas por trombosis, ya sea arterial o venosa. Además, se consideran una fuente importante de morbilidad en las personas que las padecen y sobreviven. Los estados de hipercoagulabilidad o trombofilias son condiciones clínicas que afectan a una serie de pacientes con tendencia anormal a presentar eventos trombóticos. La deficiencia de proteína C (PC) y proteína S (PS) constituyen causas de trombofilias congénitas o adquiridas que predisponen a la aparición de trastornos tromboembólicos, pérdidas recurrentes de embarazos, trombosis venosas recurrentes, entre otros. Su diagnóstico es de gran importancia porque permite realizar profilaxis para evitar el riesgo de recurrencia e informa sobre la posibilidad de un estado de portador en cualquier otro miembro de la familia
For several centuries it has been known that coagulation defects cause hemorrhagic disease, but the study of its counterpart, thrombotic diseases, has been developed in more depth just a few decades ago. These disorders of coagulation system are one of the most common causes of death in the world today, where about two million people die every year from thrombosis, either arterial or venous. They are also considered an important source of morbidity in people who suffer it and survive. Hypercoagulable state or thrombophilia are clinical conditions that affect a number of patients with abnormal tendency to thrombotic events. Deficiency of protein C (PC) and protein S (PS) are causes of congenital or acquired thrombophilias that predispose to thromboembolic disorders, recurrent pregnancy loss, recurrent venous thrombosis, among others. Its diagnosis is very important it provides tools for its prophylaxis in order to reduce the risk of recurrence and the possibility of identify a carrier state in any other family member
Asunto(s)
Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/sangre , Deficiencia de Proteína S/complicaciones , Deficiencia de Proteína S/sangre , Trombofilia/complicaciones , Trombofilia/etiología , Estudios de Casos y Controles , Pruebas Genéticas/métodos , Salud de la Familia/estadística & datos numéricosRESUMEN
Disseminate intravascular coagulation (DIC) is a clinical pathological syndrome associated to several diseases. Sepsis is the most common cause in infants and children. DIC results from the anomalous activation of blood coagulation, widespread formation of thrombi in the microcirculation, and consumption of clotting factors and platelets. Clinical findings are variable; the most common is bleeding, followed by purpura and acral gangrene (purpura fulminans). We report a patient with sepsis associated-DIC and concurrent deep venous thrombosis. The diagnostic evaluation allowed to discover inherited thrombophilia associated to protein C deficiency.
Asunto(s)
Coagulación Intravascular Diseminada/complicaciones , Deficiencia de Proteína C/complicaciones , Sepsis/complicaciones , Trombosis de la Vena/complicaciones , Humanos , Lactante , MasculinoRESUMEN
La coagulación intravascular diseminada es un síndrome clinicopatológico que complica a varias enfermedades graves; la sepsis es la causa más común en los pacientes pediátricos. Resulta de una anormal activación del sistema de coagulación, que conduce a la formación de trombos en la microcirculación, y al consumo de plaquetas y factores de la coagulación. Los hallazgos clínicos son variables; las hemorragias son la presentación más frecuente, seguidas de la púrpura y la gangrena de las extremidades (púrpura fulminante). Se presenta el caso de un paciente con coagulación intravascular diseminada asociada a sepsis, con trombosis venosa profunda concomitante. Los estudios permitieron diagnosticar una trombofilia hereditaria asociada a déficit hereditario de proteína C.
Disseminate intravascular coagulation (DIC) is a clinical pathological syndrome associated to several diseases. Sepsis is the most common cause in infants and children. DIC results from the anomalous activation of blood coagulation, widespread formation of thrombi in the microcirculation, and consumption of clotting factors and platelets. Clinical findings are variable; the most common is bleeding, followed by purpura and acral gangrene (purpura fulminans). We report a patient with sepsis associated-DIC and concurrent deep venous thrombosis. The diagnostic evaluation allowed to discover inherited thrombophilia associated to protein C deficiency.
Asunto(s)
Humanos , Lactante , Masculino , Coagulación Intravascular Diseminada/complicaciones , Deficiencia de Proteína C/complicaciones , Sepsis/complicaciones , Trombosis de la Vena/complicacionesRESUMEN
La coagulación intravascular diseminada es un síndrome clinicopatológico que complica a varias enfermedades graves; la sepsis es la causa más común en los pacientes pediátricos. Resulta de una anormal activación del sistema de coagulación, que conduce a la formación de trombos en la microcirculación, y al consumo de plaquetas y factores de la coagulación. Los hallazgos clínicos son variables; las hemorragias son la presentación más frecuente, seguidas de la púrpura y la gangrena de las extremidades (púrpura fulminante). Se presenta el caso de un paciente con coagulación intravascular diseminada asociada a sepsis, con trombosis venosa profunda concomitante. Los estudios permitieron diagnosticar una trombofilia hereditaria asociada a déficit hereditario de proteína C.(AU)
Disseminate intravascular coagulation (DIC) is a clinical pathological syndrome associated to several diseases. Sepsis is the most common cause in infants and children. DIC results from the anomalous activation of blood coagulation, widespread formation of thrombi in the microcirculation, and consumption of clotting factors and platelets. Clinical findings are variable; the most common is bleeding, followed by purpura and acral gangrene (purpura fulminans). We report a patient with sepsis associated-DIC and concurrent deep venous thrombosis. The diagnostic evaluation allowed to discover inherited thrombophilia associated to protein C deficiency.(AU)
Asunto(s)
Humanos , Lactante , Masculino , Coagulación Intravascular Diseminada/complicaciones , Deficiencia de Proteína C/complicaciones , Sepsis/complicaciones , Trombosis de la Vena/complicacionesRESUMEN
Disseminate intravascular coagulation (DIC) is a clinical pathological syndrome associated to several diseases. Sepsis is the most common cause in infants and children. DIC results from the anomalous activation of blood coagulation, widespread formation of thrombi in the microcirculation, and consumption of clotting factors and platelets. Clinical findings are variable; the most common is bleeding, followed by purpura and acral gangrene (purpura fulminans). We report a patient with sepsis associated-DIC and concurrent deep venous thrombosis. The diagnostic evaluation allowed to discover inherited thrombophilia associated to protein C deficiency.
Asunto(s)
Coagulación Intravascular Diseminada/complicaciones , Deficiencia de Proteína C/complicaciones , Sepsis/complicaciones , Trombosis de la Vena/complicaciones , Humanos , Lactante , MasculinoRESUMEN
BACKGROUND: Recent reports support the hypothesis that thrombophilia plays an important role in the pathogenesis of Perthes disease (PD) and the objective of this report is to show evidence of the role of protein C deficiency in the etiology of PD, based on a meta-analysis of current scientific literature. MATERIAL AND METHODS: Studies were selected in all languages over the last twenty years (1986 to 2006) in MEDLINE, LILACS and EMBASE data bases. The inclusion criteria involved controlled studies, those that presented protein C as a continuous variable, and studies conducted in children with Perthes disease. The fixed effect model for continuous data was used; differences between groups were assessed by the t-test, Z-test and Cochran Q test for independent data and the level of significance was p < 0.05. RESULTS: The selected studies involved 175 patients and 193 control subjects. The selected studies were shown to be heterogeneous, but there were no statistically significant differences in protein C levels between groups. CONCLUSION: The authors' findings were unable to support the hypothesis that protein C deficiency is associated with Perthes disease and that it may play an important role in the ethiopathogenesis of avascular necrosis of the femoral head in childhood.
Asunto(s)
Enfermedad de Legg-Calve-Perthes/etiología , Deficiencia de Proteína C/complicaciones , Niño , Ensayos Clínicos Controlados como Asunto , Humanos , Enfermedad de Legg-Calve-Perthes/sangre , Deficiencia de Proteína C/sangre , Proyectos de InvestigaciónRESUMEN
Kidney graft loss because arterial thrombosis is not common and is related to risk factors such as recurrent vascular hemodialysis access thrombosis, collagen-vascular disease, repeated miscarriage, diabetes mellitus and thrombophilia. Patients having this last disorder have an increased risk of repeated thrombosis in successive transplants unless they receive anticoagulation therapy. We report a 51 year-old diabetic woman who had a history of recurrent vascular hemodialysis access thrombosis (both native and prosthetic) while on dialysis and received a cadaveric donor kidney. One month after transplantation she had axillary vein thrombosis complicated with pulmonary embolism and received anticoagulants for six months. Just days after stopping the anticoagulation, she became suddenly anuric due to renal artery thrombosis and complete graft infarction. The coagulation study showed moderate hyperhomocysteinemia and a significant protein C deficiency (39%). Days after nephrectomy she suffered a femoral vein thrombosis and anticoagulation was prescribed for life.
Asunto(s)
Anticoagulantes/uso terapéutico , Rechazo de Injerto/etiología , Trasplante de Riñón , Obstrucción de la Arteria Renal/tratamiento farmacológico , Trombofilia/complicaciones , Trombosis/tratamiento farmacológico , Anastomosis Quirúrgica , Vena Axilar , Catéteres de Permanencia , Femenino , Vena Femoral , Humanos , Hiperhomocisteinemia/complicaciones , Persona de Mediana Edad , Deficiencia de Proteína C/complicaciones , Recurrencia , Obstrucción de la Arteria Renal/etiología , Obstrucción de la Arteria Renal/cirugía , Diálisis Renal/efectos adversos , Insuficiencia Renal/terapia , Trombosis/etiología , Trombosis/cirugía , Trombosis de la Vena/etiologíaRESUMEN
Kidney graft loss because arterial thrombosis is not common and is related to risk factors such as recurrent vascular hemodialysis access thrombosis, collagen-vascular disease, repeated miscarriage, diabetes mellitus and thrombophilia. Patients having this last disorder have an increased risk of repeated thrombosis in successive transplants unless they receive anticoagulation therapy. We report a 51 year-old diabetic woman who had a history of recurrent vascular hemodialysis access thrombosis (both native and prosthetic) while on dialysis and received a cadaveric donor kidney. One month after transplantation she had axillary vein thrombosis complicated with pulmonary embolism and received anticoagulants for six months. Just days after stopping the anticoagulation, she became suddenly anuric due to renal artery thrombosis and complete graft infarction. The coagulation study showed moderate hyperhomocysteinemia and a significant protein C deficiency (39 percent). Days after nephrectomy she suffered a femoral vein thrombosis and anticoagulation was prescribed for life.
Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Anticoagulantes/uso terapéutico , Rechazo de Injerto/etiología , Trasplante de Riñón , Obstrucción de la Arteria Renal/tratamiento farmacológico , Trombofilia/complicaciones , Trombosis/tratamiento farmacológico , Insuficiencia Renal , Anastomosis Quirúrgica , Vena Axilar , Catéteres de Permanencia , Vena Femoral , Hiperhomocisteinemia/complicaciones , Deficiencia de Proteína C/complicaciones , Recurrencia , Obstrucción de la Arteria Renal/etiología , Obstrucción de la Arteria Renal/cirugía , Diálisis Renal/efectos adversos , Trombosis/etiología , Trombosis/cirugía , Trombosis de la Vena/etiologíaRESUMEN
Protein C is a plasmatic protein that is synthesized by the liver with the help of vitamin K. It regulates thrombin formation and consequently prevents thrombosis. We present a case of a newborn male with change in the color of the right foot index finger who after 4 h showed cyanosis that reached malleolus level. Upon admission we observed generalized pallor, tachycardia and a necrotic lesion in the rightfoot. We suspected a septic process and thus administered cefotaxime, vancomycin and heparin. Platelet levels were 70,000 mm3, thromboplastin 16/12 sec., partial thromboplastin 5829 sec. PCfunctionality 20% and protein S 100%. Even though the patient evolvedfavourably and showed partial recovery, an intratuberous amputation was needed. One year later a prosthesis was fitted. We need to carry out studies that support the use of PC monoclonal antibodies in order to offer better baseline treatment to patients with PC congenital deficiency and improve their quality of live.
Asunto(s)
Deficiencia de Proteína C , Pie/patología , Humanos , Recién Nacido , Masculino , Necrosis/etiología , Deficiencia de Proteína C/complicacionesRESUMEN
La proteína C (PC) es una proteína plasmática que se sintetiza en el hígado con el apoyo de la vitamina K y regula la formación de trombina y consecuentemente la prevención de una trombosis. Se presenta el caso de un recién nacido masculino, con cambio de coloración en primer dedo del pie derecho, y 4 h después cianosis hasta nivel maleolar. A su ingreso se encontró con palidez generalizada, taquicárdico y con lesión necrótica en pie derecho. Inicialmente se sospechó proceso séptico por lo cual se manejó con Cefotaxima, Vancomicina y heparina. Presentó plaquetopenia 70,000mm³, tiempo de tromboplastina 16/12 seg. y tiempo de tromboplastina parcial de 58/29 seg., con funcionalidad de PC del 20% y proteína S de 100%. A pesar de mostrar evolución favorable y una recuperación parcial de la zona afectada, requirió amputación infratuberocitaria, además de manejo con enoxaheparina que posteriormente se cambió por acenocumarina, poco después del año de edad, se colocó prótesis. Se discute la conveniencia de continuar con estudios que apoyen el uso de anticuerpos monoclonales de PC a fin de dar el tratamiento sustitutivo de base y mejorar la calidad de vida de pacientes con deficiencia congénita de la misma.
Protein C is a plasmatic protein that is synthesized by the liver with the help of vitamin K. It regulates thrombin formation and consequently prevents thrombosis. We present a case of a newborn male with change in the color of the right foot index finger who after 4 h showed cyanosis that reached malleolus level. Upon admission we observed generalized pallor, tachycardia and a necrotic lesion in the right foot. We suspected a septic process and thus administered cefotaxime, vancomycin and heparin. Platelet levels were 70,000mm³, thromboplastin 16/12 sec., partial thromboplastin 5829 sec. PC functionality 20% and protein S 100%. Even though the patient evolved favourably and showed partial recovery, an intratuberous amputation was needed. One year later a prosthesis was fitted. We need to carry out studies that support the use of PC monoclonal antibodies in order to offer better baseline treatment to patients with PC congenital deficiency and improve their quality of life.
Asunto(s)
Humanos , Recién Nacido , Masculino , Deficiencia de Proteína C , Pie/patología , Necrosis/etiología , Deficiencia de Proteína C/complicacionesRESUMEN
Acidente vascular cerebral Isquêmico (AVCI) na infância é relativamente raro, de conhecimento ainda obscuro, e com etiologia multifatorial. Pode causar grave impacto na criança e ser a primeira manifestação de doença sistêmica. O subdiagnóstico ainda é comum e são praticamente inexistentes as pesquisas sobre o assunto no nosso meio. Desordens protrombóticas têm sido descritas como importantes fatores causais do evento isquêmico na infância. Foram estudados 46 pacientes de zero a 18 anos, com diagnóstico de AVCI, no período de março/2002 a setembro/2003. Exames laboratoriais, incluindo proteínas de coagulação e ecocardiograma foram realizados. AVCI neonatal ocorreu em 35% dos casos. Crise focal e hemiparesia foram os sintomas iniciais mais freqüentes; 40% dos casos apresentaram patologia prévia. Anormalidades nas proteínas S e C ocorreram em 22% e 17% da amostra. Alterações associadas, principalmente as que geram um estado hipercoagulável, indicam que mais de um fator de risco pode causar essa doença na infância.
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Trastornos de la Coagulación Sanguínea/complicaciones , Accidente Cerebrovascular/etiología , Trastornos de la Coagulación Sanguínea/diagnóstico , Trastornos de la Coagulación Sanguínea/terapia , Infarto Cerebral/epidemiología , Infarto Cerebral/etiología , Infarto Cerebral/terapia , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/terapia , Ecocardiografía , Factores Epidemiológicos , Angiografía por Resonancia Magnética , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/diagnóstico , Deficiencia de Proteína S/complicaciones , Deficiencia de Proteína S/diagnósticoRESUMEN
Arterial ischemic stroke (AIS) in children is a relatively rare disease, not yet clearly understood and with a multifactored etiology. It can cause a severe impact on the child and be the first manifestation of a systemic disease. Delayed diagnosis is still common and research on the subject in our field practically does not exist. Prothrombotic disorders have been described as important causative factors of the ischemic event in children. Forty-six patients from zero to 18 years of age diagnosed with AIS were studied in the period between March 2002 and September 2003. Laboratory tests were realised including coagulation proteins and echocardiogram. AIS of the newborn occurred in 37% of the cases. Focal seizures and hemiparesis were the most frequent symptoms; 40% of the patients presented prior pathologies. Abnormalities of the S and C proteins occurred in 22% and 17%. Associated alterations, particularly those that generate a hypercoagulability state, indicate more than one risk factor for this disease in childhood.
Asunto(s)
Trastornos de la Coagulación Sanguínea/complicaciones , Accidente Cerebrovascular/etiología , Adolescente , Trastornos de la Coagulación Sanguínea/diagnóstico , Trastornos de la Coagulación Sanguínea/terapia , Infarto Cerebral/epidemiología , Infarto Cerebral/etiología , Infarto Cerebral/terapia , Niño , Preescolar , Factores Epidemiológicos , Femenino , Humanos , Lactante , Recién Nacido , Angiografía por Resonancia Magnética , Masculino , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/diagnóstico , Deficiencia de Proteína S/complicaciones , Deficiencia de Proteína S/diagnóstico , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/terapiaRESUMEN
Chronic thromboembolic pulmonary hypertension (CTE-PH) is an infrequent cause of pulmonary hypertension that develops in 0.1-0.2% of patients who survive after an acute venous thromboembolic event. According to the largest series so far reported, 15-30% of patients with diagnosis of CTE-PH have an underlying congenital or acquired hypercoagulable state. To determine the prevalence of thrombophilic factors in our population, we analyzed 24 patients admitted to our institution between November 1992 and March 2000 fulfilling criteria for CTE-PH. Eighteen patients disclosed abnormal results in the screening for thrombophilia. The presence of antiphospholipid antibodies (lupus anticoagulant and/or anticardiolipin antibodies) was the abnormality most frequently found (12 out of 24 patients). We found hyperhomocysteinaemia in 7/14, true protein S deficiency in 1/10, protein C deficiency in 1/13, activated protein C resistance in 1/22, antithrombin III deficiency in 1/24, and prothrombin gene G20210A mutation in 1/18 patients. Factor V Leiden was normal in all 18 patients studied. Five patients (20.8%) disclosed more than one thrombophilic abnormality. In conclusion, contrary to the largest series of patients with CTE-PH so far reported, we found that 75% of patients with CTE-PH presented at least one thrombophilic risk factor, being antiphospholipid antibodies in 50% of the cases. We recommend a thorough screening for thrombophilia in all patients with diagnosis of CTE-PH.
Asunto(s)
Hipertensión Pulmonar/etiología , Embolia Pulmonar/complicaciones , Trombofilia/complicaciones , Resistencia a la Proteína C Activada/complicaciones , Adulto , Anciano , Anticuerpos Antifosfolípidos/sangre , Deficiencia de Antitrombina III , Enfermedad Crónica , Femenino , Humanos , Hiperhomocisteinemia/complicaciones , Masculino , Persona de Mediana Edad , Mutación , Estudios Prospectivos , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína S/complicaciones , Protrombina/genéticaRESUMEN
An 8-year-old girl with homozygous protein C deficiency who had undergone maintenance dialysis since birth because of renal veins with thrombosis was treated with an en bloc heterotopic auxiliary liver and bilateral renal transplantation. The reconstitution of protein C activity by auxiliary liver transplantation facilitated successful renal transplantation.
Asunto(s)
Fallo Renal Crónico/etiología , Fallo Renal Crónico/cirugía , Trasplante de Riñón/métodos , Trasplante de Hígado/métodos , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína C/cirugía , Trasplante Heterotópico/métodos , Niño , Coledocostomía , Femenino , Homocigoto , Humanos , Fenotipo , Deficiencia de Proteína C/genética , Diálisis Renal , Venas Renales , Trombosis de la Vena/etiologíaRESUMEN
We report a case of stroke in a child with acquired protein C deficiency receiving valproic acid (VPA). To investigate the possible association of VPA with protein C deficiency, protein C levels were measured in 20 children receiving VPA monotherapy and 20 children receiving other anticonvulsants. Protein C levels were reduced in up to 45% of the VPA-treated subjects.