RESUMEN
BACKGROUND AND AIMS: Chronic intestinal failure is a condition causing severe impairment of intestinal functions; long-term total parenteral nutrition is required to provide adequate nutritional support. METHODS: This is a 15-year follow-up study of paediatric patients with intestinal failure receiving long-term home parenteral nutrition. RESULTS: Thirty-six patients were included in the study, all aged <16 years. Total parenteral nutrition and home parenteral nutrition were administered respectively to 100.97 and 85.20 patients-year. Today, 12 out of 36 patients are still on parenteral nutrition. A total of 99 central venous catheters were inserted, for mean 2.75 catheters/patient. The overall incidence rates of catheter-related complications was 1.79 per 1000 days-catheter for sepsis and 3.37 per 1000 days-catheter for mechanical complications. Two multivariate Cox-models have been used to examine the role of some predictors for septic or mechanical complications. The only risk factor for septic complications was the indication for parenteral nutrition, and the only predictor of mechanical complications was the insertion period. CONCLUSIONS: Our experience in the treatment of paediatric patients with gastrointestinal diseases confirms that long-term parenteral nutrition has become a safe and appropriate method in the treatment of severe chronic intestinal failure.
Asunto(s)
Cateterismo Venoso Central/efectos adversos , Enfermedades Intestinales/terapia , Nutrición Parenteral Total en el Domicilio/efectos adversos , Sepsis/etiología , Cateterismo Venoso Central/estadística & datos numéricos , Niño , Preescolar , Enfermedad Crónica , Falla de Equipo/estadística & datos numéricos , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Italia , Masculino , Análisis Multivariante , Nutrición Parenteral Total en el Domicilio/estadística & datos numéricos , Modelos de Riesgos Proporcionales , Factores de Riesgo , Sepsis/epidemiologíaRESUMEN
Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.