Signos guía en el diagnóstico de enfermedad metabólica / Guiding signs in metabolic disease diagnosis

Los errores innatos del metabolismo son un grupo de enfermedades genéticas con sintomatología muy inespecífica y por tanto difícil diagnóstico si no existe una sospecha clínica elevada. Sin embargo existen algunos datos de la exploración física y de las pruebas complementarias que pueden enfocar el proceso diagnóstico hacia la solicitud de pruebas específicas que lo confirmen. El caso que presentamos trata de destacar algunos de estos datos que pueden hacer sospechar la existencia de un defecto congénito de la glucosilación de proteínas, trastorno infrecuente pero con algunas formas tratables, por lo que su sospecha y diagnóstico precoz es de vital importancia (AU)

Inborn errors of metabolism are a group of genetic diseases with non specific symptoms and therefore difficult to diagnose without high clinical suspicion. However there are some physical examination data and laboratory tests that can focus the diagnostic process to the implementation of specific tests to confirm them. The case exposed highlights some of these data that can make us suspect the existence of a congenital defect of glycosylation of proteins, rare disorder but with some treatable variations, that make their suspicion and early diagnosis of great importance (AU)

Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.

BACKGROUND/OBJECTIVES: The home enteral nutrition (HEN) provides nutritional support to children with chronic diseases who are nutritionally compromised and allows them to be discharged more quickly from hospitals. In 2003, a web-based registry (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition -NEPAD-) was created with the objective of gathering information about pediatric HEN practices in Spain. AIM: The aim of this study was to report the implementation of the NEPAD (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition) registry of pediatric HEN in Spain and to analyze data evolution trends from 2003 to 2010. SUBJECTS/METHODS: The data from the Spanish NEPAD registry were analyzed according to the following variables: demographic data, diagnosis, indication for HEN, nutritional support regime and administration route. RESULTS: Over the study period, 952 patients (1048 episodes) from 20 Spanish hospitals were included in the NEPAD registry. The most frequent indication for HEN was decreased oral intake (64%), and neurological disease was the most prevalent illness. HEN was delivered via a nasogastric tube in 573 episodes (54.7%), by gastrostomy in 375 episodes (35.8%), oral feeding in 77 episodes (7.3%) and by jejunal access in 23 episodes (2.2%). Significant differences in the mode of administration were observed based on the pathology of the child (χ(2), P<0.0001). The cyclic feeding was the most widely used technique for the administration of HEN. Most of the patients used a pump and a polymeric formula. Transition to oral feeding was the primary reason for discontinuation of this type of support. CONCLUSIONS: Since the NEPAD registry was established in Spain, the number of documented patients has increased more than 25-fold. Many children with chronic illness benefit from HEN, mainly those suffering from neurological diseases.

Home enteral nutrition in children; a 10 year experience with 304 pediatric patients / Nutrición enteral domiciliara en niños; 10 años de experiencia con 304 pacientes

Background & aims: Home enteral nutrition is used increasingly in pediatric populations. Our objective was to describe the profile of pediatric patients requiring this treatment. Material and methods: All patients under 18 years old requiring treatment with home enteral nutrition between January 1995 and December 2004 were analyzed retrospectively. Results: 304 patients were studied (157 boys). The mean age at the start of treatment was 4.02 ± 4.09 years, median of 2.5 years; 28% of all patients were under 1 year. The main indications were oncological disease in 91 patients (29.9%) and digestive diseases in 84 (27.6%). There were significant differences depending on the clinical diagnosis for the start age, type of access, infusion regime and formula prescribed. Nutrients were delivered by nasogastric tube in 218 patients (71.7%). Overnight enteral nutrition was the preferred infusion regime in 155 patients (51%). Adult or pediatric polymeric formulas were mostly prescribed in 190 patients (62.5%). The mean treatment duration was 306 ± 544 days. Conclusion: In our series, enteral support usually begins at an early age. Its characteristics varied depending on patient pathology. Knowledge of the pediatric patient profile is important to design the most effective strategy for home enteral nutrition (AU)

Introducción y objetivos: La nutrición enteral domiciliaria es un soporte nutricional cada vez más utilizado en población pediátrica. Nuestro objetivo ha sido describir el perfil de un grupo de pacientes pediátricos que precisaron este tratamiento. Material y métodos: Se analizaron retrospectivamente todos los pacientes menores de 18 años que precisaron tratamiento con nutrición enteral domiciliaria entre enero 1995 y diciembre 2004. Resultados: Se estudiaron 304 pacientes (157 niños). La edad media al inicio del tratamiento fue de 4,02 ± 4,09 años, con una mediana de 2,5 años; un 28% de los pacientes eran menores de 1 año. Las indicaciones principales fueron la enfermedad oncológica en 91 pacientes (29,9%) y la digestiva en 84 (27,6%). Se encontraron diferencias significativas en función del diagnóstico clínico para la edad de inicio, el tipo de acceso, el modo de administración y la fórmula prescrita. El tipo de acceso más utilizado fue la sonda nasogástrica en 218 pacientes (71,7%). El régimen de infusión más utilizado fue la nutrición enteral nocturna en 155 pacientes (51%). Se prescribió principalmente fórmula polimérica de adultos o pediátrica en 190 pacientes (62,5%). La duración media del tratamiento fue de 306 ± 544 días. Conclusión: En nuestra serie, el soporte enteral suele iniciarse a edades muy tempranas. Sus características variaron en función de la patología del paciente. Conocer el perfil del paciente pediátrico es importante para diseñar la estrategia más eficaz en el uso de la nutrición enteral domiciliaria (AU)

Home enteral nutrition in children: a 10 year experience with 304 pediatric patients.

BACKGROUND & AIMS: Home enteral nutrition is used increasingly in pediatric populations. Our objective was to describe the profile of pediatric patients requiring this treatment. MATERIAL AND METHODS: All patients under 18 years old requiring treatment with home enteral nutrition between January 1995 and December 2004 were analyzed retrospectively. RESULTS: 304 patients were studied (157 boys). The mean age at the start of treatment was 4.02 ± 4.09 years, median of 2.5 years; 28% of all patients were under 1 year. The main indications were oncological disease in 91 patients (29.9%) and digestive diseases in 84 (27.6%). There were significant differences depending on the clinical diagnosis for the start age, type of access, infusion regime and formula prescribed. Nutrients were delivered by nasogastric tube in 218 patients (71.7%). Overnight enteral nutrition was the preferred infusion regime in 155 patients (51%). Adult or pediatric polymeric formulas were mostly prescribed in 190 patients (62.5%). The mean treatment duration was 306 ± 544 days. CONCLUSION: In our series, enteral support usually begins at an early age. Its characteristics varied depending on patient pathology. Knowledge of the pediatric patient profile is important to design the most effective strategy for home enteral nutrition.

Current status of pediatric home enteral nutrition in Spain: The importance of the NEPAD register / Estado actual de la nutrición enteral pediátrica en España: la importancia del registro NEPAD

Home enteral nutrition (HEN) is a type of enteral nutrition (EN) which is becoming progressively more widespread in pediatrics due to the benefits it affords to patients, their families and to reducing hospital costs. However, the true extent of its use is unknown in Spain as the data-base set up for this purpose is still underused (Registro de Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria -NEPAD-). More thorough registration of patients in the NEPAD online register will provide information about the characteristics of HEN in Spain: prevalence, diagnosis, the population sector being administered HEN, complications and developments. Likewise, forecast and planning of the necessary resources could be made while those in use could be analysed (AU)

La nutrición enteral domiciliaria (NED) es una modalidad de nutrición enteral (NE) con una progresiva extensión en pediatría por los beneficios que supone para el paciente, sus familiares y la disminución de los costes hospitalarios. Sin embargo, se desconoce su verdadero alcance en España ya que el registro creado a tal efecto está aún infrautilizado (Registro de Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria -NEPAD-). La inclusión exhaustiva de pacientes en NEPAD permitiría conocer las características de la NED en España: prevalencia, indicaciones, población a la que se le está administrando, complicaciones y evolución. Así mismo se podría realizar una previsión y planificación de los recursos que se precisan y analizar los que se están utilizando (AU)

Current status of pediatric home enteral nutrition in Spain: the importance of the NEPAD register.

Home enteral nutrition (HEN) is a type of enteral nutrition (EN) which is becoming progressively more widespread in pediatrics due to the benefits it affords to patients, their families and to reducing hospital costs. However, the true extent of its use is unknown in Spain as the data-base set up for this purpose is still underused (Registro de Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria -NEPAD-). More thorough registration of patients in the NEPAD online register will provide information about the characteristics of HEN in Spain: prevalence, diagnosis, the population sector being administered HEN, complications and developments. Likewise, forecast and planning of the necessary resources could be made while those in use could be analysed.