RESUMEN
Leishmaniasis is a disease of the immunocompetent population, more often affecting infants and young children. However, the number of leishmaniasis cases associated with immunosuppression has increased over the last 20 years. The visceral form of the disease, visceral leishmaniasis (VL), is identified as an opportunistic infection in immunosuppressed individuals, occurring mainly after solid organ transplantation, especially in renal transplant recipients. Limited data are available about VL after hematopoietic stem cell transplantation (HSCT). We report the cases of 3 patients with late VL after allogeneic HSCT, and review the literature.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas/efectos adversos , Leishmaniasis/etiología , Adulto , Anfotericina B/uso terapéutico , Antiprotozoarios/uso terapéutico , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Inhibidores de Factor de Coagulación Sanguínea/sangre , Factores de Coagulación Sanguínea/uso terapéutico , Enfermedad de von Willebrand Tipo 3/inmunología , Factor de von Willebrand/inmunología , Niño , Humanos , Masculino , Proteínas Recombinantes/uso terapéutico , Resultado del Tratamiento , Enfermedad de von Willebrand Tipo 3/tratamiento farmacológicoAsunto(s)
Inhibidores de Factor de Coagulación Sanguínea/inmunología , Factor VIII/inmunología , Hemofilia A/tratamiento farmacológico , Tolerancia Inmunológica/inmunología , Factor de von Willebrand/inmunología , Niño , Humanos , Tolerancia Inmunológica/efectos de los fármacos , Masculino , Factor de von Willebrand/efectos de los fármacosRESUMEN
The distribution of mutations/polymorphisms in genes affecting haemostasis [factor V Leiden (FVL), FV H1298R (FVR(2)), FII 20210A, b-Fib 455G-->A, FXIII V34L, PAI-1 4G, HPA-1b] among 141 children with thrombosis at various sites and 103 controls was compared. Additionally, the carriage of these mutations/polymorphisms was associated with the levels of their corresponding proteins in thrombosed children. Thrombosis was more frequent in boys (p = 0.021). No studied mutation/polymorphism was found to be a risk factor for thrombosis, except for FVL (odds ratio 3.8, 95% CI 1.4-10.6). The risk of thrombosis for FVL carriers was twice as high in children with an idiopathic thrombosis (odds ratio 5.4) than in thrombosed children with an underlying disease or a triggering event (odds ratio 2.7). FVL carriers had an odds ratio of 5.9 (95% CI 1.8-19.6) when FVR(2) was absent. In thrombosed children, the activated protein C resistance ratio was significantly lower in the presence of FVL (p < 0.001). Prothrombin and fibrinogen levels, although higher in FII 20210A and b-Fib 455G-->A carriers, did not reach statistical significance.
Asunto(s)
Hemostasis/genética , Mutación , Polimorfismo Genético , Tromboembolia/genética , Factores de Coagulación Sanguínea/genética , Estudios de Casos y Controles , Factor V/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Recién Nacido , Masculino , Oportunidad Relativa , Tromboembolia/etiologíaRESUMEN
BACKGROUND: The pathogenesis of thrombosis in childhood seems to be multifactorial implicating genetic and environmental factors. AIM: To compare the distributions of mutations/polymorphisms in genes affecting hemostasis (factor V Leiden - FVL, FV H1298R-FVR2, FII 20210A, b-Fib 455G>A, FXIII V34L, PAI-1 4G, HPA-1b) or homocysteine metabolism (MTHFR C677T, MTHFR A1298C) among 90 children with arterial ischemic stroke (AIS) and 103 controls, and to associate the carriage of these mutations/polymorphisms with their corresponding proteins in children with AIS. RESULTS: AIS was more frequent in boys (p < 0.01). No studied mutation/polymorphism was found to be a risk factor for AIS, except for FVL [odds ratio 4.2 (95% CI 1.5-12.1)], the presence of which was even higher in 31 children with congenital AIS [odds ratio 6.82 (95% CI 2.0-22.8)]. FVL carriers had an odds ratio of 5.76 (95% CI 1.6-6.4) when FVR2 was absent. In thrombosed children, activated protein C resistance, prothrombin and fibrinogen levels were higher in the presence of FVL, FII20210A or b-Fib 455G-->A, respectively. Double heterozygotes in both MTHFR C677T and A1298T or homozygotes in one had significantly elevated homocysteine levels. CONCLUSION: Except for FVL, no definite conclusion could be reached regarding the involvement of the studied mutations/polymorphisms in childhood AIS.