RESUMEN
La disgenesia tubular renal es una enfermedad adquirida durante el desarrollo fetal o heredada, con un patrón autosómico recesivo. Histológicamente es una severa anomalía del desarrollo de los túbulos renales. Clínicamente, se caracteriza por anuria fetal persistente y muerte perinatal, probablemente debido a hipoplasia pulmonar y secuencia Potter. Presentamos el caso de un recién nacido de sexo femenino que murió horas después del nacimiento por insuficiencia renal y respiratoria. La necropsia informó de disgenesia tubular renal (AU)
Renal tubular dysgenesis is acquired during fetal development or through autosomal recessive inheritance. Histologically, this entity is a severe disorder affecting renal tubular development. Clinically, renal tubular dysgenesis is characterized by persistent fetal anuria and perinatal demise, probably due to pulmonary hypoplasia and Potter sequence. We report the case of a female neonate who died a few hours after birth from renal and respiratory failure. Post-mortem examination identified renal tubular dysgenesis (AU)
Asunto(s)
Humanos , Femenino , Embarazo , Adulto , Feto/anomalías , Anuria/congénito , Anuria/complicaciones , Anuria/diagnóstico , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/diagnóstico , Desarrollo Fetal/genética , Mortalidad Fetal , Trastornos de los Cromosomas/fisiopatología , Trastornos de los Cromosomas , Leucocitosis/complicacionesRESUMEN
Renal tubular dysgenesis (RTD), a rare, lethal, autosomal recessive disorder, is characterised by short and poorly differentiated proximal convoluted tubules associated with oligohydramnios, Potter sequence and neonatal death from respiratory failure. We report an unusual case of neonatal anuria owing to RTD with normally formed lungs, in-utero exposure to naproxen sodium and atypical histology in that the glomeruli were not as crowded as usually seen in RTD. When there is anuria in an infant following birth in the context of a normal renal ultrasound and an absence of objective evidence of perinatal hypoxia, RTD should be considered.
Asunto(s)
Antiinflamatorios no Esteroideos/efectos adversos , Túbulos Renales Proximales/anomalías , Naproxeno/efectos adversos , Efectos Tardíos de la Exposición Prenatal , Adulto , Anuria/congénito , Anuria/etiología , Resultado Fatal , Femenino , Humanos , Recién Nacido , Túbulos Renales Proximales/patología , Intercambio Materno-Fetal , EmbarazoAsunto(s)
Lesión Renal Aguda/inducido químicamente , Inhibidores de la Enzima Convertidora de Angiotensina/efectos adversos , Anuria/inducido químicamente , Enalapril/efectos adversos , Hipertensión/tratamiento farmacológico , Complicaciones Cardiovasculares del Embarazo/tratamiento farmacológico , Efectos Tardíos de la Exposición Prenatal , Lesión Renal Aguda/terapia , Adulto , Inhibidores de la Enzima Convertidora de Angiotensina/sangre , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Anuria/congénito , Anuria/terapia , Cesárea , Enalapril/sangre , Enalapril/uso terapéutico , Femenino , Humanos , Recién Nacido , Radioisótopos de Yodo , Riñón/diagnóstico por imagen , Riñón/fisiopatología , Peptidil-Dipeptidasa A/sangre , Diálisis Peritoneal , Embarazo , Tercer Trimestre del Embarazo , Cintigrafía , Pentetato de Tecnecio Tc 99mRESUMEN
Renal tubular dysgenesis, a congenital disorder of renal tubular development, was diagnosed in two newborns with oligohydramnios and Potter phenotype. Renal tubular dysgenesis (RTD) is a recently recognized congenital disorder of renal tubular development associated with oligohydramnios, Potter phenotype, and neonatal respiratory and renal failure. We report two newborn siblings with typical clinical and anatomic features of RTD. The diagnosis was proven by autopsy in one child. The pediatrician should consider the diagnosis of RTD in a child with congenital anuria and structurally normal kidneys on ultrasound, especially if a maternal history of late trimester oligohydramnios is present.
Asunto(s)
Anuria/congénito , Túbulos Renales/anomalías , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Consanguinidad , Femenino , Humanos , Recién Nacido , Oligohidramnios/complicacionesRESUMEN
A new syndrome of oligohydramnios, Potter's syndrome, and anuric renal failure leading to stillbirth or neonatal death from respiratory failure has recently been described. Histologically, there is renal tubular dysgenesis, especially of the proximal tubules, and apparent glomerular crowding. To date, five families have been reported, in four of which there have been affected sibs and in two parental consanguinity. The disorder is, therefore, thought to be inherited in an autosomal recessive manner.