Hyperammonaemia is a metabolic derangement that may cause severe neurological damage and even death due to cerebral oedema, further complicating the prognosis of its triggering disease. In small children it is a rare condition usually associated to inborn errors of the metabolism. As age rises, and especially in adults, it may be precipitated by heterogeneous causes such as liver disease, drugs, urinary infections, shock, or dehydration. In older patients, it is often overlooked, or its danger minimized. This protocol was drafted to provide an outline of the clinical measures required to normalise ammonia levels in patients of all ages, aiming to assist clinicians with no previous experience in its treatment. It is an updated protocol developed by a panel of experts after a review of recent publications. We point out the importance of frequent monitoring to assess the response to treatment, the nutritional measures that ensure not only protein restriction but adequate caloric intake and the need to avoid delays in the use of specific pharmacological therapies and, especially, extrarenal clearance measures. In this regard, we propose initiating haemodialysis when ammonia levels are >200−350 µmol/L in children up to 18 months of age and >150−200 µmol/L after that age.
Hyperammonemia , Liver Diseases , Adult , Aged , Ammonia/metabolism , Child , Humans , Hyperammonemia/diagnosis , Hyperammonemia/etiology , Hyperammonemia/therapy , Liver Diseases/complications , Prognosis , Renal Dialysis/adverse effects
OBJECTIVES: The aim of the present study was to assess reproducibility and inter-rater reliability of 2 nutritional screening tools (NST): Screening Tool for Risk on Nutritional Status and Growth (STRONGkids) and Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP). METHODS: Prospective observational multicentre study. Patients ages 1 month or older admitted to paediatric or surgical wards were tested within 24 hours of admission by 2 independent observers: experts specialized in paediatric nutrition (physicians or dieticians) and clinical staff nonexpert in nutrition. Diagnosis on admission, underlying diseases, and length of stay were registered. STATISTICAL ANALYSIS: Kappa index (κ) to evaluate agreement between observers. RESULTS: A total of 223 patients were included (53.4% boys), with mean age of 5.59 (95% confidence interval 4.94-6.22) years. Experts classified 9.9% of patients at high risk with STRONGkids and 19.7% using STAMP, whereas nonexpert staff assigned 6.7% of patients to the high-risk category with STRONGkids and 21.9% with STAMP. Agreement between expert and nonexpert staff was good: 94.78% for STRONGkids (κ 0.72 [Pâ<â0.001]); 92.55% for STAMP (κ 0.74 [Pâ<â0.001]). The rate of malnutrition was significantly higher among high-risk patients with both NST, independent of examiner experience. After adjusting for age, both STRONGkids and STAMP high-risk scores predicted longer length of stay, whether assessed by experts or nonexperts, although differences were higher with STRONGkids. CONCLUSIONS: Agreement between experts and nonexpert staff in nutrition was good, producing a similar high-risk patient profile. Our results demonstrate that these NSTs are appropriate for nutritional screening in settings in which users have no previous experience in the field.
Malnutrition/diagnosis , Nutrition Assessment , Adolescent , Child , Child Nutritional Physiological Phenomena , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Linear Models , Male , Nutritional Status , Observer Variation , Prospective Studies , Reproducibility of Results , Risk Assessment
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is required to prevent neurological complications. This retrospective, multicentre, open-label, uncontrolled, phase IIIb study evaluated the efficacy and safety of carglumic acid, a synthetic structural analogue of NAG, for treating hyperammonaemia during OA decompensation. METHODS: Eligible patients had confirmed OA and hyperammonaemia (plasma NH3 > 60 µmol/L) in ≥1 decompensation episode treated with carglumic acid (dose discretionary, mean (SD) first dose 96.3 (73.8) mg/kg). The primary outcome was change in plasma ammonia from baseline to endpoint (last available ammonia measurement at ≤18 hours after the last carglumic acid administration, or on Day 15) for each episode. Secondary outcomes included clinical response and safety. RESULTS: The efficacy population (received ≥1 dose of study drug and had post-baseline measurements) comprised 41 patients (MMA: 21, PA: 16, IVA: 4) with 48 decompensation episodes (MMA: 25, PA: 19, IVA: 4). Mean baseline plasma ammonia concentration was 468.3 (±365.3) µmol/L in neonates (29 episodes) and 171.3 (±75.7) µmol/L in non-neonates (19 episodes). At endpoint the mean plasma NH3 concentration was 60.7 (±36.5) µmol/L in neonates and 55.2 (±21.8) µmol/L in non-neonates. Median time to normalise ammonaemia was 38.4 hours in neonates vs 28.3 hours in non-neonates and was similar between OA subgroups (MMA: 37.5 hours, PA: 36.0 hours, IVA: 40.5 hours). Median time to ammonia normalisation was 1.5 and 1.6 days in patients receiving and not receiving concomitant scavenger therapy, respectively. Although patients receiving carglumic acid with scavengers had a greater reduction in plasma ammonia, the endpoint ammonia levels were similar with or without scavenger therapy. Clinical symptoms improved with therapy. Twenty-five of 57 patients in the safety population (67 episodes) experienced AEs, most of which were not drug-related. Overall, carglumic acid seems to have a good safety profile for treating hyperammonaemia during OA decompensation. CONCLUSION: Carglumic acid when used with or without ammonia scavengers, is an effective treatment for restoration of normal plasma ammonia concentrations in hyperammonaemic episodes in OA patients.
Ammonia/blood , Glutamates/therapeutic use , Hyperammonemia/blood , Hyperammonemia/drug therapy , Amino Acid Metabolism, Inborn Errors/blood , Amino Acid Metabolism, Inborn Errors/drug therapy , Female , Humans , Infant, Newborn , Male , Propionic Acidemia/blood , Propionic Acidemia/drug therapy , Retrospective Studies , Treatment Outcome
BACKGROUND: Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS: Observational, cross-sectional and multicenter study. Clinical, biochemical and genetic data were collected from patients with UCDs, treated in the metabolic diseases centers in Spain between February 2012 and February 2013, covering the entire Spanish population. Heterozygous mothers of patients with OTC deficiency were only included if they were on treatment due to being symptomatic or having biochemistry abnormalities. RESULTS: 104 patients from 98 families were included. Ornithine transcarbamylase deficiency was the most frequent condition (64.4%) (61.2% female) followed by type 1 citrullinemia (21.1%) and argininosuccinic aciduria (9.6%). Only 13 patients (12.5%) were diagnosed in a pre-symptomatic state. 63% of the cases presented with type intoxication encephalopathy. The median ammonia level at onset was 298 µmol/L (169-615). The genotype of 75 patients is known, with 18 new mutations having been described. During the data collection period four patients died, three of them in the early days of life. The median current age is 9.96 years (5.29-18), with 25 patients over 18 years of age. Anthropometric data, expressed as median and z-score for the Spanish population is shown. 52.5% of the cases present neurological sequelae, which have been linked to the type of disease, neonatal onset, hepatic failure at diagnosis and ammonia values at diagnosis. 93 patients are following a protein restrictive diet, 0.84 g/kg/day (0.67-1.10), 50 are receiving essential amino acid supplements, 0.25 g/kg/day (0.20-0.45), 58 arginine, 156 mg/kg/day (109-305) and 45 citrulline, 150 mg/kg/day (105-199). 65 patients are being treated with drugs: 4 with sodium benzoate, 50 with sodium phenylbutyrate, 10 with both drugs and 1 with carglumic acid. CONCLUSIONS: Studies like this make it possible to analyze the frequency, natural history and clinical practices in the area of rare diseases, with the purpose of knowing the needs of the patients and thus planning their care.
Urea Cycle Disorders, Inborn/diagnosis , Urea Cycle Disorders, Inborn/epidemiology , Urea Cycle Disorders, Inborn/genetics , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Male , Spain/epidemiology , Young Adult
UNLABELLED: Malnutrition among hospitalized patients has clinical implications and is associated with adverse outcomes: depression of the immune system, impaired wound healing, muscle wasting, longer length of stay, higher costs and increased mortality. Although the rate of malnutrition in hospitalized children varies in different studies, it seems to be lower than in adult population. Nevertheless, this is a population that has a higher risk of developing malnutrition during hospital stay. There is a need to find the most suitable nutrition screening tool for pediatric patients. AIM: As a first step, we have performed a nationwide study on the prevalence of malnutrition on admission, in order to further evaluate the results of employing a screening tool (STAMP). MATERIAL AND METHODS: The study is a multicenter, transversal study performed in 32 Spanish hospital between June and September 2011 in patients under 17 admitted to a the hospital longer than 48 hours. Weight, height and STAMP questionnaire were done on admission and repeated at day 7, 14 or at discharge. Nutritional status was classified according to Waterlow index for height and for weight. The study was approved by the Ethics Research Committee in each hospital and informed consent obtained prior to be included in the study. RESULTS: 991 patients were finally included. Mean age was 5.0 years (SD: 4.6), distributed uniformly among ages. Moderate to severe malnutrition was present in 7.8%, and overweight-obesity in 37.9%. We found a significant correlation between nutritional status and type of disease. There were no correlationship with age, or with plasmatic albumin levels. comments: This is the first nationwide study on the prevalence of malnutrition on admission in pediatric patients. Malnutrition in pediatric patients was present in around 8% of admissions, slightly inferior to other series. The most likely explanation is that the study included patients from different types of hospitals, mimicking real life conditions.
La desnutrición en los pacientes hospitalizados tiene repercusiones clínicas y se asocia con peores resultados: inmunodepresión, retraso en la cicatrización de las heridas, atrofia muscular, prolongación del ingreso hospitalario y mayor mortalidad. La tasa de desnutrición al ingreso en el paciente pediátrico varía con los estudios, aunque parece inferior a lo que ocurre en el paciente adulto. Sin embargo, es una población de mayor riesgo de desarrollar desnutrición durante el ingreso. Se precisa, por tanto, encontrar una buena herramienta de cribado nutricional. Objetivo: Como primer paso para alcanzar ese objetivo se realizó un estudio de ámbito nacional para determinar la tasa de desnutrición en el ingreso. Material y métodos: Se trató de un estudio transversal, multicéntrico realizado en 32 hospitales españoles entre junio y septiembre de 2011 en pacientes < 17 años que ingresaran en el hospital por un periodo > 48 horas. Se midieron peso y talla y se pasó el cuestionario STAMP en el momento del ingreso y a los 7, 14 días o en el momento del alta. El estado nutricional se clasificó de acuerdo con el índice de Waterlow para peso y talla. El estudio fue aprobado por el Comité Ético de Investigación de cada uno de los hospitales y se requirió la firma del consentimiento informado antes de su inclusión en el estudio. Resultados: 991 pacientes participaron en el estudio. La edad media fue de 5 años (DE: 4,6), distribuidos de forma uniforme entre todas las edades. Se encontró desnutrición moderada o grave en el 7,8% y sobrepeso-obesidad en el 37,9% de los ingresados. Encontramos una situación nutricional significativamente peor para todos los grupos de edad en función de la enfermedad de base. No encontramos correlación entre la desnutrición y la edad, o los niveles de albúmina sérica. Comentarios: Esta es la primera encuesta nacional para estudiar la prevalencia de desnutrición en el momento del ingreso. La cifra encontrada, 8%, fue ligeramente inferior a la encontrada en otros estudios, probablemente debido a la inclusión de pacientes de hospitales de distinto grado de complejidad, acercándose a lo que sería una muestra real de la población española.
Malnutrition/epidemiology , Nutritional Status , Patient Admission , Child , Child, Preschool , Cross-Sectional Studies , Female , Hospitals , Humans , Infant , Male , Prevalence , Spain
La desnutrición en los pacientes hospitalizados tiene repercusiones clínicas y se asocia con peores resultados: inmunodepresión, retraso en la cicatrización de las heridas, atrofia muscular, prolongación del ingreso hospitalario y mayor mortalidad. La tasa de desnutrición al ingreso en el paciente pediátrico varía con los estudios, aunque parece inferior a lo que ocurre en el paciente adulto. Sin embargo, es una población de mayor riesgo de desarrollar desnutrición durante el ingreso. Se precisa, por tanto, encontrar una buena herramienta de cribado nutricional. Objetivo: Como primer paso para alcanzar ese objetivo se realizó un estudio de ámbito nacional para determinar la tasa de desnutrición en el ingreso. Material y métodos: Se trató de un estudio transversal, multicéntrico realizado en 32 hospitales españoles entre junio y septiembre de 2011 en pacientes < 17 años que ingresaran en el hospital por un periodo > 48 horas. Se midieron peso y talla y se pasó el cuestionario STAMP en el momento del ingreso y a los 7, 14 días o en el momento del alta. El estado nutricional se clasificó de acuerdo con el índice de Waterlow para peso y talla. El estudio fue aprobado por el Comité Ético de Investigación de cada uno de los hospitales y se requirió la firma del consentimiento informado antes de su inclusión en el estudio. Resultados: 991 pacientes participaron en el estudio. La edad media fue de 5 años (DE: 4,6), distribuidos de forma uniforme entre todas las edades. Se encontró desnutrición moderada o grave en el 7,8% y sobrepeso-obesidad en el 37,9% de los ingresados. Encontramos una situación nutricional significativamente peor para todos los grupos de edad en función de la enfermedad de base. No encontramos correlación entre la desnutrición y la edad, o los niveles de albúmina sérica. Comentarios: Esta es la primera encuesta nacional para estudiar la prevalencia de desnutrición en el momento del ingreso. La cifra encontrada, 8%, fue ligeramente inferior a la encontrada en otros estudios, probablemente debido a la inclusión de pacientes de hospitales de distinto grado de complejidad, acercándose a lo que sería una muestra real de la población española (AU)
Malnutrition among hospitalized patients has clinical implications and is associated with adverse outcomes: depression of the immune system, impaired wound healing, muscle wasting, longer length of stay, higher costs and increased mortality. Although the rate of malnutrition in hospitalized children varies in different studies, it seems to be lower than in adult population. Nevertheless, this is a population that has a higher risk of developing malnutrition during hospital stay. There is a need to find the most suitable nutrition screening tool for pediatric patients. Aim: As a first step, we have performed a nationwide study on the prevalence of malnutrition on admission, in order to further evaluate the results of employing a screening tool (STAMP). Material & methods: The study is a multicenter, transversal study performed in 32 Spanish hospital between June and September 2011 in patients under 17 admitted to a the hospital longer than 48 hours. Weight, height and STAMP questionnaire were done on admission and repeated at day 7, 14 or at discharge. Nutritional status was classified according to Water-low index for height and for weight. The study was approved by the Ethics Research Committee in each hospital and informed consent obtained prior to be included in the study. Results: 991 patients were finally included. Mean age was 5.0 years (SD: 4.6), distributed uniformly among ages. Moderate to severe malnutrition was present in 7.8%, and overweight-obesity in 37.9%. We found a significant correlation between nutritional status and type of disease. There were no correlationship with age, or with plasmatic albumin levels. Comments: This is the first nationwide study on the prevalence of malnutrition on admission in pediatric patients. Malnutrition in pediatric patients was present in around 8% of admissions, slightly inferior to other series. The most likely explanation is that the study included patients from different types of hospitals, mimicking real life conditions (AU)
Humans , Male , Female , Infant , Child, Preschool , Child , Nutrition Assessment , Nutritional Status , Child Nutrition Disorders/epidemiology , Child, Hospitalized/statistics & numerical data , Cross-Sectional Studies
La desnutrición es frecuente en los niños hospitalizados, está asociada a un aumento de la estancia hospitalaria y a numerosas prescripciones, por tanto a un aumento del costo y a mayor número de infecciones. La desnutrición durante la infancia ha sido asociada con un pobre crecimiento, reducidas adquisiciones en la educación y conocimientos y posiblemente tenga implicaciones en la salud en la edad adulta. Para prevenir la malnutrición y la malnutrición adquirida en el hospital es necesario identificar precozmente a los pacientes desnutridos, incluso en el momento del ingreso, también se deberán identificar a los que tienen riesgo de desnutrirse durante la enfermedad, aunque estas recomendaciones no han podido incluirse en las rutinas de la practica clónica. La prevalencia de la malnutrición aguda hospitalaria en lactantes y niños va desde un 6,1% a un 32% dependiendo de la edad, del tipo de hospital y de la enfermedad porque se ha descrito incluso una prevalencia entre el 40-60% en los niños con enfermedad crónica. Con la idea de mejorar el cuidado nutricional en los niños la Sociedad Europea de Gastroenterología Hepatologíay Nutrición (ESPGHAN) ha recomendado el establecimiento de Unidades de Nutrición pediátrica que entre sus objetivos estarían la identificación de pacientes desnutridos y la instauración precoz de un adecuado soporte nutricional. Sin embargo en nuestro país hay muy pocas Unidades de Nutrición en los Hospitales Infantiles. En los últimos años se han desarrollado varios herramientas de cribado nutricional que son simples y útiles aunque han sido publicadas a partir de sus estudios locales sin haber sido probadas por varios autores. Es necesario que se compruebe su aplicabilidad, concordancia y utilidad para que puedan ser útiles. Es importante que las herramientas puedan ser incluidas en la práctica clínica para que puedan repercutir en el soporte nutricional precoz y adecuado (AU)
Malnutrition is associated to increased lenght of stay, more prescriptions and a higher economic cost and rate of infections. Iy is common in patients admitted to hospital. The prevention of malnutrition and hospital acquired malnutrition needs their early identification, included those patients who are undernourished and those with risk, but these recommendations have not been introduced in the rutine practice. Malnutrition in children has been associated with poor growth, reduced educational achievements and possible implications for adult health. The prevalence of acute malnutrition in infants and children ranges from 6.1% to 32% and in children who have underlying disease range increase (40-60%).In order to improve nutritional care in pediatrics the European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) has recommended the stablishment of nutrition support teams, but in Spain this Teams are scarce now. Teams tasks should include identification of malnutriton risk patients and the provision of adequate nutritional support. In the last 10 years several simple and useful nutrition screening Tools for children have been developed. This Tools has been tested by their authors in their studies without validated in larger cohorts. It is also very important to include screening Tools as part as the standard pediatric care and to have the possibility to administer nutritional support to malnourished children (AU)
Humans , Male , Female , Child , Child Nutrition Disorders/epidemiology , Malnutrition/epidemiology , Nutrition Assessment , Child, Hospitalized/statistics & numerical data , Length of Stay/statistics & numerical data , Mass Screening/methods
