Asunto(s)
Bacteriemia/microbiología , Infección Hospitalaria/microbiología , Cardiopatías Congénitas/complicaciones , Infecciones Estafilocócicas/microbiología , Staphylococcus/aislamiento & purificación , Bacteriemia/complicaciones , Técnicas de Tipificación Bacteriana , Infección Hospitalaria/complicaciones , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Filogenia , Análisis de Secuencia de ADN , Especificidad de la Especie , Infecciones Estafilocócicas/complicaciones , Staphylococcus/clasificaciónRESUMEN
The characteristic features of the Cantrell-sequence--anterior thoraco-abdominal wall defect with ectopia cordis and diaphragm, sternum, pericardium, and heart defects--have been observed in animals following maternal administration of beta-aminopropionitrile, a toxic amino-acid derivative. We report on an unusual case of the Cantrell-sequence in a premature infant with associated dysmelia, aplasia of the right kidney, cerebellar hypoplasia and circumscribed aplasia of the cutis, which has not been reported previously. Maternal history suggested an occupational exposure to aminopropionitriles prior to pregnancy. Prenatal ultrasound, differential diagnosis, perinatal management, and the teratogenic role of aminopropionitriles in this rare genetic disorder are discussed.
Asunto(s)
Anomalías Múltiples/etiología , Aminopropionitrilo/efectos adversos , Exposición Profesional/efectos adversos , Complicaciones del Embarazo/diagnóstico , Efectos Tardíos de la Exposición Prenatal , Adulto , Resultado Fatal , Femenino , Humanos , Recién Nacido , Embarazo , Complicaciones del Embarazo/etiologíaRESUMEN
Children with various grades of renal insufficiency (CON group) maintained uric acid excretion over a range of glomerular filtration rate (GFR) from 27 to 160 ml/min*1.73m2 despite a decreased filtered load which was paralleled by glomerular filtration of uric acid. This was achieved by a compensatory decrease of net uric acid reabsorption (TUA) and an increasing fractional excretion of uric acid (FEUA) with decreasing GFR. Although there was a decreased GFR in the group of children after transplantation (NTx group) there was no difference in TUA and FEUA between the NTx group and the CON group. Uric acid transport was not affected in children treated with Cyclosporine (CyA) for nephrotic syndrome (NEPH group) compared to the CON group. Decreased fractional phosphate reabsorption in the NTx group suggests proximal tubule damage associated with disturbed uric acid handling. Under conditions of water diuresis hyperuricemia seen in NTx may result from an indirect effect of renal ischemic damage due to the transplantation procedure causing disturbance of proximal tubular uric acid (active) secretion/reabsorption.