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.

Evaluación de la calidad de vida en niños y adolescentes con diabetes tipo 1 / Evaluation of quality of life in children and adolescents with tpe I diabetes

Este trabajo destaca la importancia de evaluar la calidad de vida como variable indispensable para conocer el estado de salud general de los pacientes pediátricos con diabetes. Objetivos: Describir y valorar los instrumentos creados para evaluar la calidad de vida en población pediátrica con diabetes tipo 1, destacando aquéllos que son más adecuados para tal fin. Método: Se analizan los estudios en los que se ha medido la calidad de vida en este tipo de pacientes y se describen los instrumentos más adecuados para valorar su calidad de vida. Resultados: De un total de 24 estudios en los que se habían utilizado hasta ocho instrumentos diferentes, sólo dos han sido creados o adaptados específicamente para niños con diabetes: el Diabetes Quality of Life for Youths (DQOLY) y el Pediatric Quality of Life Inventory (PedsQL). Conclusiones: La calidad de vida se ha relacionado en la mayoría de los estudios con variables psicológicas y biológicas de los pacientes, como el estrés, la ansiedad o el control metabólico, mostrando la necesidad de ser incluida como un elemento fundamental a tener en cuenta en los diseños de programas terapéuticos integrales. El presente estudio destaca dos instrumentos como los más adecuados para medir esta variable en niños y adolescentes con DM1

This paper emphasizes the importance of evaluating quality of life as an indispensable variable to know the state of health of pediatric patients with diabetes. Objectives: To describe and assess the instruments for evaluating quality of life in pediatric patients with type-1 diabetes, emphasizing those that are the most appropriate. Methods: An analysis of the studies in which quality of life in children and adolescents with type-1 diabetes has been performed and a description of the most adequate instruments for evaluating their quality of life has been provided. Results: A total of 24 studies, in which up to eight different questionnaires had been used, were reviewed and it was found that only two of them had been created or specifically adapted for children with Diabetes: the Quality Diabetes of for Life Youths (DQOLY) and the Pediatric Quality of Life Inventory (PedsQL). Conclusions: In most of the studies, quality of life was related to patient psychological and biological variables, such as stress, anxiety or metabolic control, showing the need of taking the quality of life as a fundamental element in the design of integral therapeutic programs. The present paper chooses two instruments that are considered the most suitable for evaluating this variable in children and adolescents with type 1 diabetes