ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics. / Síndrome ABCD, una causa infrecuente de hipercalcemia en pediatría.

ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date. Although it is a rare cause of pediatric hypercalcemia, it should be considered in children with Down syndrome once other more common etiologies have been ruled out. Once this diagnosis is confirmed, the recommended treatment is to reduce dietary calcium intake and work with an interdisciplinary team to maintain an adequate calorie and protein intake.

El síndrome ABCD (por sus siglas en inglés, ABnormal Calcium, Calcinosis and Creatinine in Down syndrome) se caracteriza por la asociación de hipercalcemia, hipercalciuria, nefrocalcinosis y alteración de la función renal en pacientes con síndrome de Down. Existen solo 7 casos previamente publicados en el mundo, aunque se cree que está subdiagnosticado. En este reporte, presentamos 2 nuevos pacientes con este síndrome y realizamos una comparación con los casos informados hasta el momento. Si bien es una causa rara de hipercalcemia pediátrica, debe considerarse en niños con síndrome de Down una vez descartadas otras etiologías más frecuentes. Al confirmarse este diagnóstico, el tratamiento recomendado es la reducción de calcio en la dieta, trabajando de manera interdisciplinaria para mantener un aporte calórico proteico adecuado.

Calidad de vida relacionada con la salud en niños y adolescentes con enfermedad renal crónica / Quality of life related to health in children and adolescents with chronic kidney disease

Introducción: La enfermedad renal crónica (ERC) es una patología compleja en la infancia siendo necesario evaluar el impacto de la misma en la vida del niño. Estudiar la calidad de vida relacionada con la salud (CVRS) facilita el conocimiento del estado de salud y mejora la elección de estrategias de tratamiento. Objetivo: Conocer la CVRS de los niños y adolescentes con ERC en tratamiento conservador, según su propia percepción y la de sus padres, y la relación con las restricciones del plan alimentario. Materiales y método: Diseño descriptivo, observacional, transversal. Se incluyeron niños de 2 a 18 años y sus padres. Se aplicó el cuestionario genérico validado PedsQLTM 4.0. Se evaluó la CVRS según la percepción de los padres y los niños y su relación con las restricciones del plan de alimentación. Paquete estadístico SPSS 20.0.Resultados: Participaron 84 pacientes y sus padres. La percepción de los padres fue mayor a la de los niños en el puntaje total (p=0,041), psicosocial (p= 0,042) y escolar (p=0,007). Según las restricciones del plan alimentario se hallaron diferencias significativas en el dominio físico de los padres (p=0,044).Conclusiones: Se evidenció discordancia en la percepción sobre la CVRS de los padres con respecto a los niños siendo los puntajes mayores en los primeros. En las restricciones alimentarias se observó diferencias en el dominio físico de los padres.

Additive antiproteinuric effect of enalapril and losartan in children with hemolytic uremic syndrome.

BACKGROUND: Angiotensin-converting enzyme inhibitors or angiotensin II type 1 receptor blockers decrease postdiarrheal hemolytic uremic syndrome (D + HUS) sequelar proteinuria. However, proteinuria may persist in some patients. In nephropathies other than D + HUS, an additive antiproteinuric effect with coadministration of both drugs has been observed. METHODS: To assess such an effect in D + HUS, 17 proteinuric children were retrospectively studied. After a median period of 1 year post-acute stage (range 0.5-1.9) patients received enalapril alone for a median of 2.6 years (range 0.33-12.0) at a median dose of 0.4 mg/kg/day (range 0.2-0.56). As proteinuria persisted, losartan was added at a median dose of 1.0 mg/kg/day (range 0.5-1.5) during 2.1 years (range 0.5-5.0). RESULTS: The decrease in proteinuria with enalapril was 58.0 %, which was further reduced to 83.8 % from the initial value after losartan introduction. The percentage of reduction was significantly greater with the association of both drugs (p = 0.0006) compared with the effect of enalapril exclusively (p = 0.023). Serum potassium, glomerular filtration rate, and blood pressure remained unchanged. CONCLUSIONS: Our results suggest that adding losartan to persisting proteinuric D + HUS children already on enalapril is safe and reduces proteinuria more effectively. Whereas this effect is associated with long-term kidney protection, it should be determined by prospective controlled studies.

Effect of diet, enalapril, or losartan in post-diarrheal hemolytic uremic syndrome nephropathy.

Proteinuria is the main indicator of renal disease progression in many chronic conditions. There is currently little information available on the efficacy, safety, and individual tolerance of patients with post-diarrheal hemolytic uremic syndrome (D+ HUS) nephropathy to therapies involving diet, enalapril, or losartan. A multicenter, double-blind, randomized controlled trail was conducted to evaluate the effect of a normosodic-normoproteic diet (Phase I) and the effect of normosodic-normoproteic diet plus enalapril (0.18-0.27 mg/kg/day) or losartan (0.89-1.34 mg/kg/day) (Phase II) on children with D+ HUS, normal renal function, and persistent, mild (5.1-49.9 mg/kg/day) proteinuria. Dietary intervention reduced the mean protein intake from 3.4 to 2.2 mg/kg/day. Of 137 children, proteinuria normalized in 91 (66.4 %) within 23-45 days; the remaining 46 patients were randomized to diet plus placebo (group 1, n = 16), plus losartan (group 2, n = 16), or enalapril (group 3, n = 14). In groups 1, 2, and 3, proteinuria was reduced by 30.0, 82.0, and 66.3%, respectively, and normalized in six (37.5%), three (81.3%), and 11 (78.6%) patients, respectively (χ(2)= 8.9, p = 0.015). These results suggest that: (1) a normosodic-normoproteic diet can normalize proteinuria in the majority of children with D+ HUS with mild sequelae, (2) the addition of enalapril or losartan to such dietary restrictions of protein further reduces proteinuria, and (3) these therapeutic interventions are safe and well tolerated. Whether these short-term effects can be extended to the long-term remains to be demonstrated.

Diagnóstico de situación y evaluación de un programa de educación comunitaria para la prevención del Síndrome Urémico Hemolítico / Situation Diagnosis and Evaluation of a Community Education Program for the Prevention of Hemolytic Uremic Syndrome

Se conocen los puntos precisos de intervención en la cadena epidemiológica para prevenir el Síndrome Urémico Hemolítico, pero las condiciones pueden variar entre distintas localidades. OBJETIVOS: Con este estudio se pretende mostrar la utilidad de un modelo de diagnóstico de situación que permite optimizar la implementación de un programa preventivo de educación comunitaria de tipo “formación de formadores” en dos municipios de la provincia de Buenos Aires, y una evaluación de procesos. MÉTODO: El diagnóstico incluyó el relevamiento de la situación socio-sanitaria, hábitos y costumbres alimentarios y detección de los problemas en la cadena de producción, comercialización y consumo de alimentos. La evaluación del proceso fue cuali-cuantitativa: número de talleres y de participantes, e indagación de fortalezas y debilidades del proceso. RESULTADOS: Los principales problemas encontrados fueron la carencia de agua potable y de manejo de las excretas en un gran porcentaje de la población y los deficientes controles bromatológicos y de mantenimiento de la cadena de frío en la provisión de carne y leche. Este diagnóstico permitió adaptar el programa a las condiciones específicas locales, elemento necesario para lograr una intervención eficaz. Se realizaron en total 26 talleres con la participación de 588 agentes. El material gráfico fue de gran utilidad para la comprensión de los contenidos docentes y todos los participantes de los talleres respondieron con gran motivación. Se logró el apoyo de las autoridades locales, lo que facilitó la ejecución del programa

The precise points of intervention in the epidemiological chain to prevent Hemolytic Uremic Syndromeare well known, although conditions may vary between different localities. OBJECTIVES: This study aims to show the usefulness of a situation diagnostic model to optimize the implementation of a preventive community education program type “training the trainers” in two municipalities in the province of Buenos Aires, and the evaluation of the process. METHODS: The diagnosis included a survey of the socio-sanitary conditions, food habits and identifying problem sin the chain of production, marketing and consumption of food. Process assessment was qualitative and quantitative: number of workshops and participants, and determination of strengths and weaknesses of the process. RESULTS: The main concerns were: lack of safe water and excreta management in a large percentage of the population, weak bromatological controls and maintenance of cold chainin providing meat and milk. This diagnosis allowed to adaptthe program to specific local conditions, which is necessary to achieve effective intervention. A total of 26 workshops involving 588 agents were carried out. The artwork was useful for the understanding of educational contents and all workshop participants responded with great motivation. The support from local authorities facilitated the implementation of the program

[Education for consumers: one of the tools for decreasing the incidence of hemolitic uremic syndrome]. / Educación a los consumidores: una de las herramientas para disminuir la incidencia de casos de síndrome urémico hemolítico.

In order to guarantee that harmless food is ingested by consumers, it is essential that strict hygienic procedures are followed both during the elaboration of food and during the procedures that range from the purchasing, the cooking and the consumption of food. This is an invaluable and unquestionable tool that should be used in order to decrease the incidence of Hemolytic Uremic Syndrome (HUS) in our country. The State, the enterprise owners, and the consumers should take responsibility for this: the State should guarantee the citizens' access to safe food products through an adequate legislation and a mechanism for it to be controlled and obeyed; the enterprise owners should obey the current regulations and provide their employees with education about the importance of these regulations; and the consumers should take responsibility for how they handle food.