R. Barrio Castellanos

Impacto del diagnóstico de la enfermedad celíaca en el control metabólico de la diabetes tipo 1

Objetivo Determinar la prevalencia de enfermedad celiaca (EC) en pacientes pediatricos con diabetes tipo 1 (DM-1) y evaluar la repercusion de la retirada del gluten de la dieta en el crecimiento y el control metabolico. Pacientes y metodos Estudio retrospectivo de 261 pacientes pediatricos con DM-1. El diagnostico de EC se baso en la presencia de anticuerpos antiendomisio y transglutaminasa junto con la confirmacion mediante biopsia intestinal. Valoramos el impacto de la retirada del gluten sobre el control metabolico (medias anuales de hemoglobina glucosilada [HbA1c]), el crecimiento (talla y velocidad de crecimiento anual) y el estado nutritivo (indice de masa corporal [IMC]). Comparamos los pacientes diagnosticados de DM y EC despues del diagnostico de la diabetes con un grupo control de pacientes afectados exclusivamente de DM-1. Resultados Un total de 21 de los 261 pacientes (8 %) presentaban EC. El 19 % de ellos tenian otro tipo de autoinmunidad asociada. No evidenciamos diferencias significativas en cuanto al crecimiento y al grado de control metabolico de la diabetes tras la retirada del gluten. Conclusiones Encontramos una alta incidencia de EC en nuestra poblacion con DM-1. El cribado de EC no repercute en el control metabolico de la diabetes ni en el desarrollo pondero-estatural. A pesar de ello, y debido a la alta incidencia de EC en Espana y a la posibilidad de aparicion de complicaciones a largo plazo, como la osteoporosis y los linfomas, recomendamos realizar cribado sistematico en todos los pacientes diagnosticados de DM-1, fundamentalmente, en los primeros 5 anos tras el diagnostico.

Consenso sobre diagnóstico y tratamiento de las alteraciones del metabolismo hidrocarbonado en la fibrosis quística

La alteracion del metabolismo hidrocarbonado es una complicacion frecuente de la fibrosis quistica. La diabetes relacionada con fibrosis quistica (DRFQ) se debe a una disminucion en la secrecion de la insulina secundaria a la insuficiencia pancreatica. Los pacientes con fibrosis quistica y diabetes presentan mayor morbilidad y mortalidad y el mismo riesgo de las complicaciones cronicas de la diabetes que los pacientes con diabetes tipo 1o 2. El diagnostico precoz y el tratamiento adecuado de la diabetes de estos pacientes es imprescindible. En mayo de 2000 tuvo lugar en Madrid una conferencia de consenso sobre DRFQ para definir las pautas para su diagnostico y tratamiento.

Enfermedad de Graves-Basedow en el niño preescolar

Introduccion La enfermedad de Graves-Basedow, que es la causa mas frecuente de hipertiroidismo en la edad pediatrica, es muy infrecuente en el nino preescolar. Se describen los casos de 4 ninas menores de 6 anos de un total de 30 pacientes diagnosticados de enfermedad de Graves-Basedow entre 1985 y 2004. El motivo del estudio fue taquicardia, diarrea, retraso del lenguaje y estudio fortuito por alteraciones ecograficas tiroideas. La talla y la maduracion osea estaban avanzadas en 3 de las 4 pacientes. El bocio estuvo ausente o fue de muy pequeno tamano, y en ningun caso existio oftalmopatia. Todas presentaron elevacion de T4 y T3 con hormona tiroestimulante (TSH) suprimida y en 3 casos los anticuerpos estimulantes del tiroides fueron positivos (en el caso mas antiguo la tecnica no estaba disponible). Dos de las pacientes estan curadas tras 5 anos de tratamiento con carbimazol, y las otras dos estan aun en tratamiento, sin haberse evidenciado ningun efecto secundario.

Monitorización continua de glucosa para cribado de alteraciones hidrocarbonadas en fibrosis quística

BACKGROUND Diabetes mellitus (DM) is an increasing complication of cystic fibrosis (CF). It is associated with enhance morbidity. Continuous glucose monitoring system (CGMS) could detect glucose disorders earlier than other screening tests usually used. AIMS To compare oral glucose tolerance test (OGTT), HbA(1c) and CGMS in patients with CF and recent disorders of glucose homeostasis and to analyse changes in nutritional status and/or pulmonary function. PATIENTS AND METHODS Thirteen patients with CF (11-22 years, 7 males) were studied using OGTT, HbA(1c) and CGMS. All of them had newly diagnosed glucose disturbances. They were not receiving steroid therapy or had an underlying illness. In all subjects we compared: HbA(1c) levels (%), fasting and 2-hours glucose OGTT (mg/dl) and glucose CGMS values (overall, fasting, 2-hours post mean-meals and excursions >140mg/dl at any time). Furthermore, body mass index, forced expiratory volume in the first second (%) and forced vital capacity (%) were evaluated in the previous year and at the time of the study. We also analysed exocrine pancreatic function and CF-mutation. RESULTS Mean age at diagnosis of glucose disturbance was 16.4 years. All patients had insufficient exocrine pancreatic function and 11/13 presented DeltaF508 CF-mutation. Only one patient was diagnosed with DM using OGGT and 7/13 (53.8%) with CGMS. A total 77% of patients had poor nutritional status and/or pulmonary function at time of diagnosing the glucose disorder. Only 4 patients had abnormal HbA(1c) levels. CONCLUSIONS CGMS allows a better detection of glucose disorders than OGTT. Glucose homeostasis abnormalities are associated with a decrease in nutritional status and/or pulmonary function. HbA(1c) does not aid in the early diagnose of glucose disorders.

Alteraciones hidrocarbonadas en pacientes impúberes con fibrosis quística

INTRODUCTION Annual screening for abnormal glucose tolerance (AGT) with oral glucose test should begin by age 10 years in cystic fibrosis (CF) patients (Consensus-2010). AIMS To examine the frequency of AGT and its outcome in prepubertal CF patients and the changes in glycemic and nutritional status and lung function over the preceding year. PATIENTS AND METHODS Retrospective study of 19 prepubertal CF patients (68% males). All subjects underwent an oral glucose tolerance test (OGTT). Results were classified as: normal glucose tolerance (NGT) or AGT (impaired glucose tolerance [IGT], CF related diabetes [CFRD] or indeterminate glucose tolerance [INDET]). We analyzed: OGTT (glucose and insulin levels), nutritional status (BMI-SD) and lung function (forced spirometry). Statistical analysis was performed with SPSS program-version-15.0, non parametric tests. RESULTS Mean age at first OGGT: 8.5 years (5.8-9.8). Mean follow-up: 2 years (2-3). Initially, 47% patients had AGT and 53% NGT. In follow-up: 4/10 NGT patients developed AGT (3 IGT, 1 CFRD). Among initial AGT patients, of 4 INDET: 2 developed IGT, 1 CFRD. Mean age of AGT onset: 8.6 years (6.4-11.1). In 69% AGT patients a declining BMI-DS and/or lung function was found in the preceding year. In OGTTs performed, fasting and 2h AUC insulin levels were comparable between NGT and AGT; however, insulinogenic index was lower in AGT patients (p=.006). Insulin secretion was delayed in all patients. CONCLUSIONS The high frequency of AGT in prepubertal CF patients and their negative clinical impact supports the usefulness of an earlier glycemic screening.

Documento de consenso sobre tratamiento con infusion subcutanea continua de insulina de la diabetes tipo 1 en la edad pediatrica

This article reports on the Spanish Position Statement for the Diabetes Pediátric Group for the Spanish Pediatric Endocrinology Society (SEEP) on continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes. The practical issues about their indications, appropriate candidates, feasibility, and limits are outlined. The conclusions are based on the comprehensive review and balanced assessment of the evidence base on the international consensus and consensual answers to these questions for the participants.

Estudio de las funciones ejecutivas en diabetes tipo 1 mediante el test de evaluación neuropsicológica de las funciones ejecutivas en niños (ENFEN)

INTRODUCTION Neurocognitive executive function in the paediatric diabetic population is a rarely studied field. To investigate and improve this aspect could help these patients to reach their full academic potential. This led us to study the impact that variables such as age at diagnosis and adequacy of metabolic control of diabetes may have on the executive cognitive functions of this population. PATIENTS AND METHODS We studied 74 children: 37 with type 1 diabetes (group A) and 37 without diabetes (group B). Group A was divided into two subgroups, depending on age at diagnosis: early, before 5 years, (group A(1)) and late, after 5 years, (group A(2)). We compared group A and B and A(1) and A(2) groups using the test Neuropsychological assessment of executive functions in children (NAEFC). Diabetes metabolic control was performed by measuring HbA(1c) and capillary blood glucose before the test. Previous severe hypoglycaemic episodes were recorded. RESULTS Differences were found among groups A and B in the test of interference. Among the A(1) and A(2) groups only differences in the scales of phonological fluency and grey trail trace were found. The scores were higher in both cases in the early diabetic group. We did not found any correlation between HbA(1c) and blood glucose with the different tests of ENFEN results. None of the patients had previous severe hypoglycaemic episodes. CONCLUSIONS 1) Children with diabetes performed better in activities that require resistance to interference, sustained attention and attentional control. 2) Diabetic children with early diagnoses achieved high scores in phonological fluency tasks, and cognitive flexibility. 3) Response to ENFEN was not influenced by HbA(1c) and blood glucose levels before the test.

Talla baja en varones con fenotipo normal y mosaicismo 45,X/46,XY

El mosaicismo 45,X/46,XY tiene una amplia expresividad clinica. El 90 % de los casos de diagnostico prenatal son varones fenotipicamente normales, mientras que los casos de diagnostico posnatal engloban un amplio espectro clinico que incluye sindrome de Turner, disgenesia gonadal mixta, seudohermafroditismo masculino y varones aparentemente normales. Se indican los hallazgos clinicos, endocrinologicos, citogeneticos e histologicos de 3 pacientes con fenotipo masculino normal y mosaicismo 45,X/46,XY de diagnostico posnatal durante su estudio por talla baja. Solo uno de los pacientes presentaba rasgos turnerianos. No se ha encontrado correlacion entre la proporcion de lineas celulares 45,X y 46,XY en sangre, gonadas y fenotipo. La posibilidad de desarrollar complicaciones como disgenesia del tejido gonadal con riesgo de malignizacion e infertilidad y talla baja susceptible de beneficiarse del tratamiento con hormona de crecimiento implica la necesidad de un seguimiento estrecho sobre todo en aquellos pacientes de diagnostico prenatal y posnatal con fenotipo normal.

Factores de riesgo cardiovascular en niños y adolescentes españoles con diabetes mellitus tipo 1: evolución a lo largo de 9 años

OBJECTIVES To analyse the prevalence, evolution of cardiovascular risk factors (CVRF) and their relationship with follow-up of metabolic control in pediatric patients with Type 1 Diabetes (T1DM). PATIENTS AND METHODS Longitudinal ambispective study including 75 children and adolescents with T1DM diagnosed from 1996 to 2003 and followed-up for nine years. Family history of CVRF was registered. Data from the second, sixth and ninth year after diagnosis were analysed. RESULTS Family history of CVRF was found in 46.6% of the patients. The prevalence of HbA1c>7.5% in the second, sixth and ninth year after diagnosis was 45.3%, 53.3% y 56%, respectively. The prevalence of obesity (BMI>2SDS) in the three visits was 5.3%, 5.3% y 6.7%, respectively. Hypertension (BP>p90) was found in 14.6%, 8% and 13.3% of the patients in the three visits, respectively. Total cholesterol>200mg/dl: 25.3%, 13.3% and 16%; high density cholesterol lipoprotein< 40 mg/dl: 1.3%, 1.3% and 4%; low density cholesterol lipoprotein>100mg/dl: 38.6%, 34.6% and 38.6%; triglyceride>150 mg/dl: 0%, 1.3% and 2.6%, respectively. There was a significant increase in the prevalence of TG/HDL-C ≥ 2 between the sixth and the ninth year after diagnosis (1.3% and 9.3%, P<.05). A persistent HbA1c ≥ 7.5% showed a statistically significant relationship to a 0.94 decrease in HDL-C z-score between the second and the sixth year, and a persistent HbA1c<7.5% was significantly associated with a 0.55 increase in HDL-C z-score (P=.015) in the same period. CONCLUSIONS A non-optimal metabolic control in first years of DM1 is associated with a decrease in HDL-C z-score. TG/HDL-C ratio could be an early marker of cardiovascular risk.

Estado actual y recomendaciones sobre la utilización de los sistemas de monitorización continua de glucosa en niños y adolescentes con diabetes mellitus tipo 1

Glucose monitoring methods have made great advances in the last decade with the appearance of the continuous glucose monitoring systems (CGMS) that measure the glucose levels in the interstitial liquid, providing information about glucose patterns and trends, but do not replace the self-monitoring of capillary glucose. Improvement in diabetes control using the CGMS depends on the motivation and training received by the patient and family and on the continuity in its use. Due to the development and widespread use of these systems in clinical practice, the diabetes group of the Sociedad Española de Endocrinología Pediátrica has drafted a document of consensus for their indication and use in children and adolescents. Only a limited number of trials have been performed in children and adolescent populations. More data are needed on the use of this technology in order to define the impact on metabolic control.