Niveles de vitamina D y marcadores de resistencia a la insulina en pacientes pediátricos con diabetes mellitus tipo 1 / Vitamin D levels and insulin resistance markers in pediatric patients with type 1 diabetes

Objetivo: Establecer la relación entre los niveles de vitamina D y los marcadores de resistencia a la insulina en un grupo de niños con diabetes mellitus tipo 1 (DM1). Material y métodos: Estudio transversal, observacional y prospectivo. Se incluyen 90 pacientes con DM1 (<18 años) e insulinoterapia intensiva. Se recogen los siguientes datos: edad, sexo, índice de masa corporal, perímetro abdominal y de cadera, 25-hidroxivitamina D (25-OH-D), fecha de extracción, dosis de insulina, tasa estimada de disposición de glucosa (TeDG), presión arterial y hemoglobina glucosilada. Se estratifican los datos por sexo y estadio puberal. Resultados: El 26,6% de los pacientes muestran cifras de 25-OH-D <20 ng/mL. No se observan mayores necesidades de insulina en el grupo con 25-OH-D <20 ng/mL, y no se encuentran diferencias significativas en el valor de la TeDG respecto a los niños con 25-OH-D ≥20 ng/mL. Conclusiones: La insuficiencia de vitamina D es frecuente en el grupo de niños con DM1. En nuestro grupo de pacientes no se observa ninguna relación entre los niveles bajos de vitamina D y los distintos marcadores de resistencia a la insulina que puedan conllevar un aumento del riesgo metabólico en el futuro (AU)

Objective: To establish the relationship between vitamin D levels and markers of insulin resistance in children with type 1 diabetes (T1DM). Material and methods: Prospective, cross-sectional and observational study. A group of 90 patients (<18 years old) with T1DM and on intensive insulin therapy was studied. Age, gender, body mass index, waist and hip circumference, 25 hidroxyvitamin D (25-OH-D), date, insulin dose, estimated glucose disposal rate (eGDR), blood pressure and glycosylated haemoglobin were measured. The results were stratified by gender and pubertal stage. Results: 26.6% of patients showed 25-OH-D <20 ng/mL. Insulin dose are not higher in the group with 25-OH-D <20 ng/mL, and no significant differences in the value of the eGDR regarding children with 25-OH-D ≥20 ng/mL were found. Conclusions: Vitamin D insufficiency is common in our group of children with T1DM. In this group of patients no relationship was found between low levels of vitamin D and different insulin resistance markers, which can lead to an increased metabolic risk in the future (AU)

Recomendaciones del Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica sobre hábitos de alimentación para la prevención de la obesidad y los factores de riesgo cardiovascular en la infancia / Recommendations of the Spanish Paediatric Endocrinology Society Working Group on Obesity on eating habits for the prevention of obesity and cardiovascular risk factors in childhood

La obesidad infantil determina un riesgo elevado de enfermedad cardiovascular. Este artículo realiza una actualización sobre el papel que los factores dietéticos tienen sobre el desarrollo y la prevención de la obesidad en este grupo de edad. Según la evidencia científica, las recomendaciones recogidas son: promover el consumo de hidratos de carbono de absorción lenta y disminuir aquellos con índice glucémico alto, evitar el consumo de bebidas azucaradas, limitar el consumo de grasas a un 30% de las calorías totales diarias y el de grasas saturadas a un 7-10%, reducir la ingesta de colesterol, evitar durante el primer año las fórmulas con alto contenido proteico, aumentar la ingesta de fibra, reducir el aporte de sodio y realizar al menos 4 comidas al día evitando el consumo regular de comida rápida y de snacks

Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks

[Recommendations of the Spanish Paediatric Endocrinology Society Working Group on Obesity on eating habits for the prevention of obesity and cardiovascular risk factors in childhood]. / Recomendaciones del Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica sobre hábitos de alimentación para la prevención de la obesidad y los factores de riesgo cardiovascular en la infancia.

Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks.

Análisis del control metabólico de pacientes con diabetes mellitus tipo 1 que acuden a campamentos de verano en Castilla-La Mancha / Analysis of metabolic control of patients with type 1 diabetes attending summer camps in Castilla-La Mancha

Objetivo: Describir el grado de control metabólico en jóvenes con diabetes mellitus tipo 1 (DM1) y analizar los factores que pueden influir en él. Material y métodos: Se realizó un estudio descriptivo y observacional, con una recogida de datos retrospectiva, en el que se incluyó a pacientes con DM1 que acudieron a los campamentos de verano organizados por la Fundación Sociosanitaria de Castilla-La Mancha durante los años 2009 y 2010. Se determinó la hemoglobina glucosilada (HbA1c) en sangre capilar (método DCA 2000+). Se llevó a cabo un análisis estadístico mediante el programa SPSS. Resultados: Se incluyeron en el estudio 85 pacientes, con una media edad de 13,5 años. El 100% de los pacientes recibía una pauta de insulinoterapia intensiva: infusión subcutánea continua de insulina (8,2%), insulina detemir (10,6%), insulina glargina (70,6%) e insulina NPH (neutral protamine Hagedorn) (10,6%). Se realizó una media de 5,4 autoanálisis diarios (rango: 3-12). El valor medio de HbA1c era del 7,6% (rango: 5,7-13,7), presentando el 33% una HbA1c ≤7%, el 32% una HbA1c >7% y ≤8%, y un 35% una HbA1c >8%. No se encontraron diferencias significativas en función de la consulta de procedencia ni de la pauta de insulina empleada, y se observaron valores de HbA1c significativamente menores en los pacientes con menos de 2 años de evolución.Conclusiones: El factor que más influye en la HbA1c de los pacientes analizados es el tiempo de evolución de la enfermedad, sin diferencias significativas en función de la pauta de insulinoterapia (AU)

Objective: To describe the degree of metabolic control in youth with type 1 diabetes mellitus (DM1) and analyze the factors that influence in this control. Material and methods: We performed a descriptive, observational and retrospective study which includes patients with DM1 attending summer camps organized by the Fundación Sociosanitaria de Castilla-La Mancha during the years 2009 and 2010. Glycosylated hemoglobin (HbA1c) is measured in capillary blood (method DCA 2000+). Statistical analysis was performed using SPSS. Results: We collected 85 patients with mean age of 13.5 years. 100% of patients receiving intensive insulin regimen: continuous subcutaneous insulin infusion (8.2%), detemir (10.6%), glargine (70.6%) and NPH (10.6%). The mean HbA1c is 7.6% (5.7 to 13.7%), with 33% HbA1c ≤7%, 32% HbA1c >7% and ≤8%, and 35% HbA1c ≥8%. No significant differences were found depending on the consultation of origin or the pattern of insulin used, with values of HbA1c significantly lower in patients with less than 2 years of evolution. Conclusions: The factor that most influences the HbA1c of the patients analyzed is the time to disease progression, with no differences according to the pattern of insulin (AU)

Fracturas patológicas en un paciente con citrulinemia tipo 1 e inmovilización prolongada / Pathological fractures in patient with citrullinemia type 1 and prolonged immobilization

La citrulinemia clásica, o tipo 1, es un defecto congénito del ciclo de la urea debido al déficit de la enzima ácido argininosuccínico sintetasa. Las formas de comienzo neonatal conllevan una mayor gravedad clínica. Se presenta el caso de un niño de 7 años de edad con citrulinemia, diagnosticada en el periodo neonatal, y una encefalopatía severa secundaria a una hiperamoniemia grave. El paciente nunca ha tenido deambulación autónoma. Acude al servicio de urgencias por presentar un llanto persistente y un quejido intenso de 12 horas de evolución. Presenta la rodilla izquierda en flexión y con tumefacción. No refiere ningún antecedente traumático. En la radiografía ósea se detecta una fractura supracondílea del fémur. En los 12 meses siguientes presenta otras 3 fracturas patológicas. Se estudia su caso en el servicio de endocrinología infantil y se establece el diagnóstico de osteoporosis secundaria a una inmovilización prolongada. Se inicia una pauta con alendronato oral como tratamiento de uso compasivo, y el paciente presenta una evolución favorable, sin fracturas óseas a partir de entonces y con una mejoría densitométrica. En los últimos años se han publicado diversos estudios sobre el papel del alendronato oral en el tratamiento de la osteoporosis en pacientes pediátricos, sobre todo secundaria a enfermedades neuromusculares, osteogénesis imperfecta o enfermedades del tejido conectivo. Es un tratamiento que puede administrarse de forma ambulatoria, y contribuye a disminuir tanto el número de ingresos hospitalarios como el coste económico, proporcionando así a los pacientes una mayor calidad de vida. Por el momento sólo está aprobado su uso en el contexto de ensayos clínicos o como uso compasivo en niños con baja densidad mineral ósea y clínica asociada (AU)

Classic citrullinemia, or type 1, is a congenital defect of urea cycle due to a synthetase argininosuccinic acid enzyme deficit. Neonatal beginning types entail a higher clinical severity. A seven years old boy diagnosed of citrullinemia in neonatal period wih severe encefalopathy secondary to serious hyperammoniemia is discussed. The patient has never had independent ambulation.He went to the Emergency Room because of persistent crying and intense moan of 12 hours evolution. He has a bent and swollen left knee. There is no traumatic episode before. Bone X-ray shows a femoral supracondylar fracture. During the following 12 months the patient suffers three more pathological fractures. This case is studied in Pediatric Endocrinology and the patient is diagnosed of secondary osteoporosis due to prolonged immobilization. Oral alendronate treatment is given as a compassionate use with satisfactory evolution, without bone fractures since then and with a densitometric improvement. During the last years many different studies have been published about oral alendronate rol in treatment of pediatric osteoporosis, above all secondary osteoporosis to muscular dystrophy, osteogenesis imperfecta or connective tissue diseases. It is an ambulatory treatment so it decreases hospital admissions and economic costs what helps patients to improve their quality of life. Currently it is only approved in clinical trials or as compassionate use in children with low bone mineral density and associated clinic (AU)

Prevalencia de obesidad y de factores de riesgo cardiovascular en una población de pacientes pediátricos con diabetes tipo 1 / Prevalence of obesity and cardiovascular risk factors in a group of paediatric patients with type 1 diabetes

Objetivo: Se pretende establecer la prevalencia de sobrepeso-obesidad y síndrome metabólico en un grupo de pacientes pediátricos con diabetes tipo 1 (DM1) y determinar las repercusiones en el perfil lipoproteico y el control metabólico. Métodos: Se recoge a 115 pacientes (5-16 años) con DM1 e insulinoterapia intensiva. Se miden el peso, la talla, el índice de masa corporal (IMC), el perímetro abdominal (PA), la tensión arterial (TA), la hemoglobina glucosilada (HbA1c), el colesterol total (CT), el colesterol HDL (cHDL), el colesterol LDL (cLDL) y los triglicéridos (TG). Los resultados se estratifican por sexo y edad (< 11 años y ≥ 11 años). Resultados: Se obtiene una prevalencia de sobrepeso y obesidad (según valores de referencia de Hernández) del 28,69 y el 18,26%, respectivamente, con predominio femenino en ambos casos. La prevalencia de síndrome metabólico (según criterios de la Internacional Diabetes Federation) es del 3,22%. El 3,47% muesta PA > del percentil 90 para edad y sexo y el 2,6% TA sistólica ≥ 130mmHg y/o TA diastólica ≥ 85mmHg. El 4,34% muestra cHDL < 40mg/dl y el 2,6% TG ≥ 150mg/dl. Los pacientes con obesidad presentan niveles significativamente más bajos de cHDL y significativamente más altos de cLDL. No existen diferencias significativas en la HbA1c entre los pacientes con sobrepeso-obesidad y el resto. Conclusiones: Aunque el sobrepeso y la obesidad son frecuentes en los pacientes pediátricos con DM1, la prevalencia de síndrome metabólico y de factores de riesgo cardiovascular es más baja que en pacientes adultos. No obstante, el grupo de niños diabéticos con obesidad muestra un perfil lipoproteico de riesgo cardiovascular (AU)

Objective: To establish the prevalence of overweight-obesity and metabolic syndrome in a group of paediatric patients with type 1 diabetes (DM1), and to determine the effects on the lipoprotein profile and metabolic control. Methods: A group of 115 patients (5-16 years) with DM1, and on intensive insulin therapy was studied. Weight, height, body mass index (BMI), waist circumference (WC), blood pressure(BP), glycosylated haemoglobin (HbA1c), total cholesterol (TC), HDL-cholesterol (HDL-c), LDL cholesterol (LDL-c) and triglycerides (TG) were measured. The results were stratified by sexand age (< 11 years and≥11 years).Results: The prevalence of overweight and obesity (according to Hernández’s reference values) was 28.69% and 18.26%, respectively, with female predominance in both cases. The prevalence of metabolic syndrome (according to the International Diabetes Federation criteria) was 3.22%. 3.47% The WC adjusted for age and sex was > 90th percentile in 3.47% of cases, and 2.6% had a systolic BP≥130 mmHg and/or a diastolic BP≥85 mmHg. An HDL-c < 40 mg/dl was seen in 4.34%, and 2.6% had TG≥150 mg/dl. Obese patients had lower HDL-c levels and higher LDL-c levels than non-obese subjects. There were no significant differences in HbA1c between patients with overweight-obesity and the rest. Conclusions: Overweight and obesity are common in paediatric patients with DM1. Nevertheless, the prevalence of metabolic syndrome and cardiovascular risk factors is lower than in adult patients. The group of diabetic children with obesity had a lipoprotein profile of cardiovascular risk (AU)

[Prevalence of obesity and cardiovascular risk factors in a group of paediatric patients with type 1 diabetes]. / Prevalencia de obesidad y de factores de riesgo cardiovascular en una población de pacientes pediátricos con diabetes tipo 1.

OBJECTIVE: To establish the prevalence of overweight-obesity and metabolic syndrome in a group of paediatric patients with type 1 diabetes (DM1), and to determine the effects on the lipoprotein profile and metabolic control. METHODS: A group of 115 patients (5-16 years) with DM1, and on intensive insulin therapy was studied. Weight, height, body mass index (BMI), waist circumference (WC), blood pressure (BP), glycosylated haemoglobin (HbA1c), total cholesterol (TC), HDL-cholesterol (HDL-c), LDL-cholesterol (LDL-c) and triglycerides (TG) were measured. The results were stratified by sex and age (< 11 years and ≥ 11 years). RESULTS: The prevalence of overweight and obesity (according to Hernández's reference values) was 28.69% and 18.26%, respectively, with female predominance in both cases. The prevalence of metabolic syndrome (according to the International Diabetes Federation criteria) was 3.22%. 3.47% The WC adjusted for age and sex was > 90th percentile in 3.47% of cases, and 2.6% had a systolic BP ≥ 130 mmHg and/or a diastolic BP ≥ 85 mmHg. An HDL-c < 40 mg/dl was seen in 4.34%, and 2.6% had TG ≥ 150 mg/dl. Obese patients had lower HDL-c levels and higher LDL-c levels than non-obese subjects. There were no significant differences in HbA1c between patients with overweight-obesity and the rest. CONCLUSIONS: Overweight and obesity are common in paediatric patients with DM1. Nevertheless, the prevalence of metabolic syndrome and cardiovascular risk factors is lower than in adult patients. The group of diabetic children with obesity had a lipoprotein profile of cardiovascular risk.

Estudio epidemiológico de la diabetes tipo 1, en menores de 15 años en Castilla-La Mancha / Epidemiological study of type 1 diabetes in children under 15 years-old in Castilla-La Mancha (Spain)

Introducción: Se estudia la incidencia y prevalencia de la diabetes melllitus tipo 1 en menores de 15 años en Castilla-La Mancha. Material y métodos: Incidencia: se incluyen todos los casos nuevos diagnosticados en el periodo de 12 meses (2007-2008), utilizando el método captura-recaptura para el cálculo de la exhaustividad. El resultado se expresa en casos por cada 100.000 habitantes menores de 15 años y año. Prevalencia: se recogen los niños menores de 15 años diagnosticados de diabetes a fecha de 31 de mayo de 2008. Se expresa el resultado en casos por cada 1.000 menores de 15 años. Resultados: La incidencia en la comunidad autónoma es de 27,6/100.000/año, con gran variabilidad en los resultados entre las distintas provincias: Ciudad Real (34,15), Albacete (28,19), Toledo (26,57), Guadalajara (20,3) y Cuenca (17,6).La prevalencia es de 1,44/1.000 menores de 15 años y de 0,21/1.000 respecto a la población general. Por provincias: Ciudad Real (1,67), Albacete (1,64), Toledo (1,42), Cuenca (1,02) y Guadalajara (1,01).Al estratificar los resultados por sexo y edad, se observa una mayor incidencia y prevalencia en varones menores de 5 años: 13/7 y 22/10, respectivamente. La mayor incidencia corresponde al grupo de edad de 4 a 9 años y la máxima prevalencia al de 10 a 14 años. Conclusiones: La incidencia y prevalencia en menores de 15 años en Castilla-La Mancha es elevada, con una gran variabilidad entre las distintas provincias. Existe un predominio en varones, menores de 5 años. La máxima prevalencia corresponde a niños de 10 a 14 años y la mayor incidencia a niños de 5 a 9 años(AU)

Introduction We studied the incidence and prevalence of type 1 diabetes in children under 15 years-old in Castilla-La Mancha. Patients and methods: Incidence: All new cases in a 12 months period (2007-2008) were included. To calculate the completeness of ascertainment we used the capture-recapture method. The result is expressed in cases/100,000 inhabitants under 15years old/year. Prevalence: all children under 15 years diagnosed with diabetes on 31st of May of 2008 were registered. Results are expressed as cases/1000 inhabitants under 15years old. Results: The incidence in the Castilla-La Mancha was 27.6/100,000/year, but there was a wide variability among the different provinces: Ciudad Real (34.15), Albacete (28.19), Toledo (26.57), Guadalajara (20.3) and Cuenca (17.6). The prevalence was 1.44/1000 children under 15 years old and 0.21/1000 for the whole population. By provinces: Ciudad Real (1.67), Albacete (1.64), Toledo (1.42), Cuenca (1.02) and Guadalajara (1.01). By sex and age, we found a higher incidence (13/7) and prevalence (22/7) in males under 5 years old. The age group with highest incidence was the 4-9 year-olds, and the highest prevalence was in the 10-14years group. Conclusions: Both, incidence and prevalence of type 1 diabetes in children under 15years old in Castilla-La Mancha are high, with a wide range among the different provinces. There is a preponderance in males under 5years old. The highest prevalence is that of the 10-14years age group. The highest incidence was in the 5-10 year age group(AU)

Alendronato en el tratamiento de la osteoporosis secundaria a la distrofia muscular de Duchenne / Alendronate treatment of osteoporosis secondary to Duchenne muscular dystrophy

Introducción: La reducción de la movilidad y el empleo de los glucocorticoides como terapia coadyuvante son causa de osteoporosis en la distrofia muscular de Duchenne. El alendronato ha sido utilizado en la osteoporosis infantil de otras etiologías con buenos resultados y sin efectos adversos. Pacientes: Tres pacientes con distrofia de Duchenne, síntomas de afectación ósea (historia previa de fracturas y dolor óseo generalizado) y densidad mineral ósea (DMO) por densitometría radiológica de doble energía con Z-score ≤-2 desviaciones estándar. Se inicia tratamiento con alendronato oral (10mg/día). Resultados: se produce en todos los casos un incremento de la DMO lumbar (L2-L4) con mejoría del dolor óseo. No fracturas ni efectos adversos durante el seguimiento. Conclusiones: El alendronato oral produce en estos pacientes un incremento de la DMO con buena tolerancia y sin necesidad de ingreso hospitalario, por lo que mejora la calidad de vida y reduce el gasto sanitario (AU)

Introduction: Reduced mobility and glucocorticoids as adjunctive therapy causes osteoporosis in Duchenne muscular dystrophy. Alendronate has been used in childhood osteoporosis of other aetiologies with good results and no adverse effects. Patients and methods: Three patients with Duchenne dystrophy, symptoms of bone involvement (prior history of generalized bone pain and fractures) and bone mineral density (BMD) by dual-energy X-ray absorptiometry with Z-score ≤-2 SD. Treatment with oral alendronate was initiated (10mg/day). Results: There was an increase in lumbar (L2-L4) BMD in all cases, with improvement of bone pain. No fractures and adverse effects were observed during follow up. Conclusion: Oral alendronate produces an increase in BMD in these patients, with good tolerance and no need for hospitalization, and so improves quality of life and reduces health care costs (AU)

[Alendronate treatment of osteoporosis secondary to Duchenne muscular dystrophy]. / Alendronato en el tratamiento de la osteoporosis secundaria a la distrofia muscular de Duchenne.

INTRODUCTION: Reduced mobility and glucocorticoids as adjunctive therapy causes osteoporosis in Duchenne muscular dystrophy. Alendronate has been used in childhood osteoporosis of other aetiologies with good results and no adverse effects. PATIENTS AND METHODS: Three patients with Duchenne dystrophy, symptoms of bone involvement (prior history of generalized bone pain and fractures) and bone mineral density (BMD) by dual-energy X-ray absorptiometry with Z-score ≤-2 SD. Treatment with oral alendronate was initiated (10mg/day). RESULTS: There was an increase in lumbar (L2-L4) BMD in all cases, with improvement of bone pain. No fractures and adverse effects were observed during follow up. CONCLUSION: Oral alendronate produces an increase in BMD in these patients, with good tolerance and no need for hospitalization, and so improves quality of life and reduces health care costs.

Diabetes de comienzo en la infancia tratada con sulfonilureas / Childhood-onset diabetes treated with sulphonylureas

La diabetes MODY (maturity onset diabetes of the young) tipo 3 pertenece al grupo de las diabetes monogénicas y está causada por mutaciones en los genes del factor nuclear hepático 1 alfa (HNF1-alfa). Aunque en la infancia la forma más frecuente es la tipo 2, en la población generales la tipo 3. Presentamos el caso de un niño de 12 años con hiperglucemia basal y posprandrial. No se refieren síntomas cardinales de diabetes tipo 1. Existen numerosos casos de diabetes en su familia. El péptido C es 1,13 ng/ml y los marcadores de autoinmunidad pancreática son negativos. Se encuentra una mutación en el gen HNF1-alfa en el paciente, así como en su padre y en su hermana. Se inicia tratamiento con glibenclamida a dosis de 2,5 mg/día para disminuir el riesgo de afectación microvascular, que en la diabetes MODY tipo 3 es tan alto como en la diabetes tipo 1. De ese modo, las glucemias se normalizan y la hemoglobina glucosilada se sitúa entre el 4,9 y el 5,6%. Nose observan efectos colaterales, salvo algunas hipoglucemias leves (AU)

MODY 3 type diabetes belongs to the group of monogenic diabetes and is caused by mutations in the gene for hepatocyte nuclear factor 1-alpha (HNF1-alpha). Although MODY 2 type diabetes is the most frequent form of MODY diabetes in childhood, type 3 is the most frequent in the general population. We report the case of a 12 year old child with basal and post-prandrial hyperglycaemia. Nocardinal symptoms of type 1 diabetes mellitus were present. There are numerous cases of diabetes in his family. C-Peptide was 1.13 ng/ml and pancreatic autoimmunity markers were negative. HNF-1alpha gene mutation was found in the patient as well as in his father and sister. Treatment with glibenclamide was started at a dose of 2.5 mg/day in order to reduce the risk of microvascular disease, as this as high in MODY 3 type diabetes as in type 1 diabetes mellitus. Blood glucose returned to normal and glycosylated haemoglobin was maintained between 4.9 and 5.6 %. Side-effects were not observed except some mild hypoglycaemias (AU)

[Childhood-onset diabetes treated with sulphonylureas]. / Diabetes de comienzo en la infancia tratada con sulfonilureas.

MODY 3 type diabetes belongs to the group of monogenic diabetes and is caused by mutations in the gene for hepatocyte nuclear factor 1-alpha (HNF1-alpha). Although MODY 2 type diabetes is the most frequent form of MODY diabetes in childhood, type 3 is the most frequent in the general population. We report the case of a 12 year old child with basal and post-prandrial hyperglycaemia. No cardinal symptoms of type 1 diabetes mellitus were present. There are numerous cases of diabetes in his family. C-Peptide was 1.13 ng/ml and pancreatic autoimmunity markers were negative. HNF-1alpha gene mutation was found in the patient as well as in his father and sister. Treatment with glibenclamide was started at a dose of 2.5 mg/day in order to reduce the risk of microvascular disease, as this as high in MODY 3 type diabetes as in type 1 diabetes mellitus. Blood glucose returned to normal and glycosylated haemoglobin was maintained between 4.9 and 5.6 %. Side-effects were not observed except some mild hypoglycaemias.

Pubarquia precoz de rápida evolución / Rapidly progressive precocious pubarche

No disponible

[Crigler-Najjar syndrome: diagnosis and treatment]. / Síndrome de Crigler-Najjar: diagnóstico y tratamiento.

INTRODUCTION: Crigler-Najjar syndrome (CNS) is a very rare disease characterized by severe indirect hyperbilirubinemia from birth with normal liver function. It may cause kernicterus at any age. This disease is due to a total or partial deficiency of the UDP-glucuronosyltransferase enzyme caused by a mutation of the five exons of the ULT1A1 gene. PATIENTS AND METHODS: We reviewed the clinical outcomes of 7 children diagnosed with CNS between 1987 and 2004. RESULTS: There were three boys and four girls (two of which were homozygote twins). Two children had familial consanguinity. Three out of the six families had another healthy child. The mean follow-up was 8.3 years (14 months-17 years). In all patients, jaundice was detected in the first 3 days of life. The children were admitted to hospital between the fourth and the sixtieth day of life with jaundice and indirect bilirubin levels of between 12.5 and 32 mg/dl. In all patients, hemolysis was ruled out and hepatic function was normal. The diagnosis was based on genetic study in 4 patients, on inactive UGT enzyme in liver in 1 patient, and on clinical features exclusively in 2 patients. Treatment consisted of phenobarbital and phototherapy from 8 to 16 hours a day in all patients except three. Associated calcium salts were found in 5 patients and cholestyramine was found in two. Two patients developed kernicterus. Two underwent liver transplantation and bilirubin levels became normal. The remaining patients maintained indirect bilirubin from 15 to 25 mg/dl with no associated neurological alterations. CONCLUSIONS: Patients with CNS are at greater risk of developing kernicterus, mostly associated with indirect bilirubin levels of around 25 mg/dl. Phototherapy is very useful in these patients but the only definitive treatment is liver transplantation.

Síndrome de Crigler-Najjar: diagnóstico y tratamiento / Crigler-Najjar syndrome: diagnosis and treatment

Introducción El síndrome de Crigler-Najjar (SCN) es una entidad infrecuente, caracterizada por hiperbilirrubinemia indirecta grave desde el nacimiento con función hepática normal, y que puede ocasionar querníctero a cualquier edad. Se debe a un déficit total o parcial de la enzima UDP-glucuroniltransferasa (UGT) causado por mutaciones en los exones del gen UGT1A1. Pacientes y métodos Se revisa la evolución de 7 niños, diagnosticados de SCN, de 1987 a 2004. Resultados Los pacientes son 3 niños y 4 niñas, dos de ellas gemelas homozigotas. En 2 familias existía consanguinidad y en tres los hermanos eran sanos; el resto eran hijos únicos. El seguimiento medio fue de 8,3 años (14 meses-17 años). La ictericia fue detectada en todos en los primeros 3 días de vida. El ingreso que motivó la sospecha diagnóstica ocurrió entre el día 4 y el 60 con cifras de bilirrubina indirecta (BI) de entre 12,5 y 32 mg/dl. En todos se descartó hemólisis y la función hepática fue normal. El diagnóstico se basó en un estudio genético de 4 casos, en determinación de 0 % de la actividad de la enzima UGT en hígado en uno y en criterios clínicos exclusivamente en los dos restantes. El tratamiento consistió en fenobarbital y fototerapia de 8 a 16 h diarias en todos excepto en tres. En 5 casos se asociaron sales de calcio y en dos colestiramina. Un total de 2 pacientes desarrollaron querníctero durante la evolución; 2 niños fueron trasplantados con normalización del metabolismo de la bilirrubina. El resto presentaron cifras de BI de entre 15 y 25 mg/dl sin desarrollar alteraciones neurológicas. Conclusiones El principal riesgo de los pacientes con SCN es el desarrollo de querníctero, sobre todo con cifras de BI en torno a 25 mg/dl. La fototerapia es útil en el control de estos pacientes. El trasplante hepático es el único tratamiento definitivo

Introduction Crigler-Najjar syndrome (CNS) is a very rare disease characterized by severe indirect hyperbilirubinemia from birth with normal liver function. It may cause kernicterus at any age. This disease is due to a total or partial deficiency of the UDP-glucuronosyltransferase enzyme caused by a mutation of the five exons of the ULT1A1 gene. Patients and methods We reviewed the clinical outcomes of 7 children diagnosed with CNS between 1987 and 2004. Results There were three boys and four girls (two of which were homozygote twins). Two children had familial consanguinity. Three out of the six families had another healthy child. The mean follow-up was 8.3 years (14 months-17 years). In all patients, jaundice was detected in the first 3 days of life. The children were admitted to hospital between the fourth and the sixtieth day of life with jaundice and indirect bilirubin levels of between 12.5 and 32 mg/dl. In all patients, hemolysis was ruled out and hepatic function was normal. The diagnosis was based on genetic study in 4 patients, on inactive UGT enzyme in liver in 1 patient, and on clinical features exclusively in 2 patients. Treatment consisted of phenobarbital and phototherapy from 8 to 16 hours a day in all patients except three. Associated calcium salts were found in 5 patients and cholestyramine was found in two. Two patients developed kernicterus. Two underwent liver transplantation and bilirubin levels became normal. The remaining patients maintained indirect bilirubin from 15 to 25 mg/dl with no associated neurological alterations. Conclusions Patients with CNS are at greater risk of developing kernicterus, mostly associated with indirect bilirubin levels of around 25 mg/dl. Phototherapy is very useful in these patients but the only definitive treatment is liver transplantation

Enfermedad celíaca en paciente con ataxia de origen desconocido / Celiac disease in a patient with ataxia of unknown origin

La sensibilidad al gluten es un estado de hiperrespuestainmunológica desencadenada por la ingestade gluten en sujetos con predisposición genética.Esta alteración inmunológica viene expresadapor la determinación de anticuerpos antitransglutaminasay antigliadina. Aunque las alteraciones neurológicas,sobre todo la ataxia, son frecuentes enestos pacientes, sólo el 16% tienen síntomas digestivos.Se recoge el caso de una niña de dos añoscon ataxia desde las semanas previas. No se encontraronalteraciones en las pruebas de neuroimagen,ni en las neurofisiológicas ni en las metabólicas.Se encontraron autoanticuerpos antigliadina yantitransglutaminasa positivos y se inició una dietasin gluten. En las semanas posteriores se produjouna mejoría clínica y los niveles de autoanticuerposeran más bajos

Gluten sensitivity is a state of hightened inmunologicalresponsiveness triggered by the ingestion ofgluten in genetically susceptible individuals. This inmunologicaldisorder is expressed by the finding ofantitransglutaminase and antigliadin autoantibodies.Although neurological disorders, mainly ataxia, arecommon in this patients, only 16% of them havegastrointestinal symptoms. We report a case of a2year-old child with ataxia for the previous weeks.No neuroimaging, neurophysiological nomnetabolicaldisorders were found. Nevertheless antigliadinand antitransglutaminase autoantibodies were detectedand a gluten-free diet was introduced. ln thefollowing weeks was noticed a clinical improvementand the autoantibodies levels were lower

Alteraciones neurológicas en la enfermedad celíaca: el espectro se amplía / Neurological disorders in celiac disease: new clinical aspects

Se han observado alteraciones neurológicas en grupos de celiacos desde los años sesenta, de modo que actualmente se considera que el 16% de los pacientes con síntomas neurológicos idiopáticos son celiacos. Aunque su patogenia no está clara, parece relacionarse con factores ambientales y de malabsorción sobre una base de predisposición genética que desencadenan una respuesta autoinmune. Se ha descrito una prevalencia aumentada de epilepsia (con un síndrome específico que asocia epilepsia, calcificaciones cerebrales occipitales y enfermedad celiaca), así como de cefalea, depresión y trastornos cognitivos. También se ha recogido la existencia de ataxia y neuropatía periférica producidas por la sensibilidad al gluten. Por eso, la determinación de anticuerpos IgA antitransglutaminasa tisular en el estudio de estos pacientes resulta esencial para establecer un diagnóstico precoz y una dieta sin gluten que mejorará su pronóstico

Neurological disorders has been reported in coeliac population since sixties, and so, at the present moment, 16% of patients with idiopathic neurological symptoms are diagnosed of coeliac disease. Although pathogenesis remains unclear, it seems to be related to environmental factors and malabsorption associated with a genetic susceptibility that produces an autoinmmune response. An increased prevalence of epilepsy (with a specific syndrome with bilateral occipital calcifications, epilepsy and coeliac disease), headache, depression and cognitive changes has been reported. Also, ataxia and peripheral neuropathy has been associated with gluten sensitivity. Thus, tissue transglutaminase antibodies should be an essential part of the investigation of this patients in order to get an early diagnosis and a gluten-free diet that will improve their prognosis