ABSTRACT
El cáncer en pediatría es una entidad infrecuente. Se estima que más de un 10-15 % de los tumores son secundarios a una variante patogénica en un gen de predisposición al cáncer.Se conocen más de 100 genes de predisposición al cáncer y su asociación con síndromes o tumores aislados. Uno de los más descritos es el síndrome de Li-Fraumeni.Los pacientes con este síndrome tienen alto riesgo de desarrollar uno o más tumores. Su conocimiento permite realizar un protocolo de seguimiento del paciente y de sus familiares afectos, con el que detectar precozmente nuevos tumores y disminuir la morbimortalidad del tumor y de su tratamiento.Esta revisión pretende ser una guía útil para el pediatra. Utilizando como caso guía a una familia, se revisarán los motivos de sospecha de un síndrome de Li-Fraumeni, su diagnóstico clínico y genético, y el protocolo de seguimiento de los familiares portadores de la misma mutación
Pediatric cancer is rare. It is estimated that more than 10-15 % of tumors are secondary to a pathogenic variant in a cancer predisposition gene.More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. Li-Fraumeni syndrome is one of those who have been most widely described.Patients with this syndrome present a high risk of developing one or more tumors. Its knowledge allows to establish a follow-up protocol for the patient and affected family members, so as to detect new tumors in an early manner and reduce tumor- and treatment-related morbidity and mortality.The objective of this review is to offer useful guidelines for pediatricians. Based on a family case, reasons for Li-Fraumeni syndrome suspicion, clinical and genetic diagnosis, and the follow-up protocol of family members who carry the same mutation will be reviewed.
Subject(s)
Humans , Infant , Child, Preschool , Child , Li-Fraumeni Syndrome/diagnosis , Pediatrics , Neoplastic Syndromes, Hereditary , Genes, p53 , Li-Fraumeni Syndrome/epidemiologyABSTRACT
Pediatric cancer is rare. It is estimated that more than 10-15 % of tumors are secondary to a pathogenic variant in a cancer predisposition gene. More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. Li-Fraumeni syndrome is one of those who have been most widely described. Patients with this syndrome present a high risk of developing one or more tumors. Its knowledge allows to establish a follow-up protocol for the patient and affected family members, so as to detect new tumors in an early manner and reduce tumorand treatment-related morbidity and mortality. The objective of this review is to offer useful guidelines for pediatricians. Based on a family case, reasons for Li-Fraumeni syndrome suspicion, clinical and genetic diagnosis, and the follow-up protocol of family members who carry the same mutation will be reviewed.
El cáncer en pediatría es una entidad infrecuente. Se estima que más de un 10-15 % de los tumores son secundarios a una variante patogénica en un gen de predisposición al cáncer. Se conocen más de 100 genes de predisposición al cáncer y su asociación con síndromes o tumores aislados. Uno de los más descritos es el síndrome de Li-Fraumeni. Los pacientes con este síndrome tienen alto riesgo de desarrollar uno o más tumores. Su conocimiento permite realizar un protocolo de seguimiento del paciente y de sus familiares afectos, con el que detectar precozmente nuevos tumores y disminuir la morbimortalidad del tumor y de su tratamiento. Esta revisión pretende ser una guía útil para el pediatra. Utilizando como caso guía a una familia, se revisarán los motivos de sospecha de un síndrome de Li-Fraumeni, su diagnóstico clínico y genético, y el protocolo de seguimiento de los familiares portadores de la misma mutación.
Subject(s)
Li-Fraumeni Syndrome , Child , Genetic Predisposition to Disease , Genotype , Germ-Line Mutation , Humans , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/genetics , Tumor Suppressor Protein p53/geneticsABSTRACT
INTRODUCCIÓN: Estudio retrospectivo en la unidad de cuidados intensivos neonatales de un hospital de tercer nivel sobre la incidencia de hiponatremia precoz (primeras 48 horas de vida) en prematuros. Buscamos factores de riesgo y de protección para esa alteración, como punto de partida para un cambio en la actuación médica al prescribir fluidos intravenosos. MATERIAL Y MÉTODOS: Muestra de 256 prematuros (edad gestacional: 235-366) ingresados en la unidad de cuidados intensivos neonatales de nuestro hospital, entre enero de 2016 y junio de 2018. Se determinó qué pacientes recibieron aportes intravenosos de sodio en distintos intervalos de las primeras 48 horas de vida y cuántos padecieron hiponatremia de cualquier tipo (< 135 mmol/l) y moderada-grave (< 130 mmol/l). Se estudió la relación entre hiponatremia precoz y peso/edad gestacional, administración de corticoides prenatales, enfermedad respiratoria, sepsis precoz y asfixia perinatal. RESULTADOS: Padecieron hiponatremia 81 pacientes, 31,64% del total (hasta un 50% en < 30 semanas de edad gestacional), siendo moderada-grave (< 130 mmol/l) en un 17,3% de los casos. El periodo de tiempo con más casos de hiponatremia fue el de las primeras 12 horas de vida (22,64%). Demostraron ser factores de riesgo el peso (p = 0,034), la edad gestacional (p < 0,001) y el padecimiento de enfermedad respiratoria (p < 0,001) y, en el análisis multivariable, este último se mostró relacionado de forma independiente con la hiponatremia precoz (p < 0,01; OR = 5,24; IC 95%: 2,79-9,84). La administración de betametasona prenatal no demostró proteger. CONCLUSIÓN: Según nuestros resultados creemos conveniente aportar sodio en los fluidos intravenosos prescritos los primeros días de vida, particularmente en prematuros de menos edad gestacional y en afectos de enfermedad respiratoria
INTRODUCTION: A retrospective study was conducted in the Neonatal Intensive Care Unit of a tertiary hospital to determine the incidence of early hyponatraemia (first 48hours of life) in preterm infants. Risk and protection factors in this condition were also examined as a starting point for a change in the medical action when prescribing intravenous fluids. MATERIAL AND METHODS: The study included a sample of 256 premature babies (gestational age: 235-366) admitted to the Neonatal Intensive Care Unit of a tertiary hospital between January 2016 and June 2018. The number of patients receiving intravenous sodium in different intervals during the first 48hours of life was determined, as well as the number of those with hyponatraemia of any type (< 135 mmol/l), and moderate-severe (< 130 mmol / l). An analysis was made of the relationship between early hyponatraemia and weight / gestational age, antenatal steroids exposure, respiratory pathology, early sepsis, and perinatal asphyxia. RESULTS: Hyponatraemia occurred in 81 patients, 31.64% of the total (up to 50% in < 30 weeks of gestational age), and was moderate-severe (< 130 mmol / l) in 17.3% of the cases. The period of time with the most cases of hyponatraemia was in the first 12hours of life (22.64%). Weight (P=.034), gestational age (P < .001) and respiratory disease (P < .001) were found to be risk factors and, in a multivariate analysis, the latter was independently related to early hyponatremia (P < .01, OR = 5.24, 95% CI: 2.79-9.84). Antenatal betamethasone exposure did not show to be a protection factor. CONCLUSION: According to the results of this study, it is considered an advantage to provide sodium in the intravenous fluids prescribed during the first days of life, particularly in preterm infants of lower gestational age and with respiratory disease involvement
Subject(s)
Humans , Male , Female , Infant, Newborn , Fluid Therapy/methods , Hyponatremia/etiology , Hyponatremia/prevention & control , Infant, Premature, Diseases/etiology , Infant, Premature, Diseases/prevention & control , Intensive Care, Neonatal/methods , Sodium/therapeutic use , Hyponatremia/diagnosis , Infant, Premature , Infant, Premature, Diseases/diagnosis , Infusions, Intravenous , Protective Factors , Retrospective Studies , Risk FactorsABSTRACT
INTRODUCTION: A retrospective study was conducted in the Neonatal Intensive Care Unit of a tertiary hospital to determine the incidence of early hyponatraemia (first 48hours of life) in preterm infants. Risk and protection factors in this condition were also examined as a starting point for a change in the medical action when prescribing intravenous fluids. MATERIAL AND METHODS: The study included a sample of 256 premature babies (gestational age: 235-366) admitted to the Neonatal Intensive Care Unit of a tertiary hospital between January 2016 and June 2018. The number of patients receiving intravenous sodium in different intervals during the first 48hours of life was determined, as well as the number of those with hyponatraemia of any type (<135mmol / l), and moderate-severe (<130mmol / l). An analysis was made of the relationship between early hyponatraemia and weight / gestational age, antenatal steroids exposure, respiratory pathology, early sepsis, and perinatal asphyxia. RESULTS: Hyponatraemia occurred in 81 patients, 31.64% of the total (up to 50% in<30 weeks of gestational age), and was moderate-severe (<130mmol / l) in 17.3% of the cases. The period of time with the most cases of hyponatraemia was in the first 12hours of life (22.64%). Weight (P=.034), gestational age (P<.001) and respiratory disease (P<.001) were found to be risk factors and, in a multivariate analysis, the latter was independently related to early hyponatremia (P<.01, OR=5.24, 95% CI: 2.79-9.84). Antenatal betamethasone exposure did not show to be a protection factor. CONCLUSION: According to the results of this study, it is considered an advantage to provide sodium in the intravenous fluids prescribed during the first days of life, particularly in preterm infants of lower gestational age and with respiratory disease involvement.
