Recambio mineral óseo y densitometría ósea en pacientes sometidos a dieta de riesgo: hiperfenilalaninemia y galactosemia. Respuesta del autor / Bone mineral turnover and bone densitometry in patients with dietary risk: hyperphenylalaninemia and galactosemia. Author’s response

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Desmoplastic small round cell tumor of the abdomen

Una mujer de 21 años consultó por dolor abdominalde dos meses de evolución. El estudio que sele practicó puso de manifiesto la existencia de unamasa intraperitoneal de 17 cm. La biopsia demostrabala existencia de islotes de células pequeñas yredondas, rodeadas de abundante estroma desmoplásico.La inmunohistoquímica fue fuertementepositiva para desmina y débilmente positiva para vimentinay enolasa neuronal específica. Con estoshallazgos el diagnóstico anatomopatológico fue detumor desmoplásico de célula pequeña intraabdominal.La paciente inició tratamiento con un esquemaintensivo de altas dosis de quimioterapia basada enagentes alquilantes, de acuerdo con el Servicio dePediatría del Memorial Sloan-Kettering CancerCenter, denominado protocolo P61. Tras el mismopresentó respuesta parcial siendo sometida a cirugíade las masa residuales y a continuación a quimioterapiade altas dosis con trasplante autólogo de médulaósea. Diez meses después la paciente presentóprogresión de la enfermedad por lo que está recibiendoun asegunda línea de quimioterapia

A 21-year old woman presented with a 2-monthhistory of abdominal pain. The diagnostic work-updisclosed a 17-cm intraperitoneal mass. Biopsyshowed islets containing small round cellssurrounded by abundant desmoplastic stroma.Immunohistochemistry was strongly positive fordesmin and weakly positive for vimentin andneuron-specific enolase. Pathological diagnosis wasintraabdominal round cell desmoplastic tumor. Thepatient underwent an intensive schedule of highdosealkylator-based chemotherapy, the P6 protocol,designed by the Pediatrics Division of the MemorialSloan-Kettering Cancer Center. She had a partialresponse and subsequently underwent resection ofthe residual mass followed by high-dosechemotherapy with stem cell support. Ten monthslater, the patient had disease progression and iscurrently receiving second-line chemotherapy

[Bone mineral turnover and bone densitometry in patients with a high-risk diet: hyperphenylalaninemia and galactosemia]. / Recambio mineral óseo y densitometría ósea en pacientes sometidos a dieta de riesgo: hiperfenilalaninemia y galactosemia.

INTRODUCTION: Patients with any type of congenital metabolism error are at risk for developing osteoporosis. To gain further insight into the physiopathology of this disease, we studied bone mineral turnover in 10 children with hyperphenylalaninemia, seven with phenylketonuria and six with galactosemia. Oral intake was strictly controlled and the children followed recommendations for physical exercise. MATERIAL AND METHOD: Markers of bone resorption (hydroxyproline and pyridinoline in urine samples) and markers of bone formation (levels of osteocalcin and C-terminal procollagen peptide type I) were analyzed. Bone mineral density was analyzed by ultrasound densitometry. RESULTS: A non-significant reduction in bone densitometry with respect to the normal population was observed. Bone mineral turnover was slightly diminished in patients with phenylketonuria but was within the normal range in patients with hyperphenylalaninemia and galactosemia. CONCLUSION: Adequate control of dietary intake of both proteins and minerals, as well as a healthy lifestyle, can prevent the development of significant alterations in bone mineralization.

Recambio mineral óseo y densiometría ósea en pacientes sometidos a dieta de riesgo: hiperfenilalaninemia y galactosemia / Bone mineral turnover and bone densitometry in patients with high-risk diet: hyperphenylalaninemia and galactosemia

Introducción. Con el fin de conocer mejor la fisiopatología de la osteoporosis que tienen riesgo de desarrollar los pacientes afectados de algunos errores congénitos del metabolismo se ha estudiado el recambio mineral óseo en 10 niños afectados de hiperfenilalaninemia media, siete de fenilcetonuria y seis de galactosemia, con un control estricto de la ingesta y unas recomendaciones de ejercicio físico adecuadas. Material y método. Se han analizando marcadores de resorción ósea, hidroxiprolina y piridinolina urinaria y de aposición ósea, osteocalcina y propéptido C terminal sérico. La densidad mineral ósea se ha analizado mediante densitometría por ultrasonidos. Resultados. Se objetiva que la densitometría ósea está disminuida respecto a la población normal sin llegar a ser estadísticamente significativo. El recambio mineral óseo está ligeramente disminuido en pacientes con fenilcetonuria, mientras que se encuentra dentro del rango de normalidad en pacientes con hiperfenilalaninemia media y galactosemia. Conclusión. El adecuado control de la ingesta dietética, tanto proteica como mineral, así como del régimen de vida saludable pueden prevenir la aparición de alteraciones significativas de la mineralización ósea

Introduction. Patients with any type of congenital metabolism error are at risk for developing osteoporosis. To gain further insight into the physiopathology of this disease, we studied bone mineral turnover in 10 children with hyperphenylalaninemia, seven with phenylketonuria and six with galactosemia. Oral intake was strictly controlled and the children followed recommendations for physical exercise. Material and method. Markers of bone resorption (hydroxyproline and pyridinoline in urine samples) and markers of bone formation (levels of osteocalcin and C-terminal procollagen peptide type I) were analyzed. Bone mineral density was analyzed by ultrasound densitometry. Results. A non-significant reduction in bone densitometry with respect to the normal population was observed. Bone mineral turnover was slightly diminished in patients with phenylketonuria but was within the normal range in patients with hyperphenylalaninemia and galactosemia. Conclusion. Adequate control of dietary intake of both proteins and minerals, as well as a healthy lifestyle, can prevent the development of significant alterations in bone mineralization

Childhood-onset congenital adrenal hyperplasia: long-term outcome and optimization of therapy.

Congenital adrenal hyperplasia is a general term applied to several disorders caused by inherited recessive defects of cortisol synthesis. The most common form is 21-hydroxylase deficiency, accounting for 95% of cases. The classical forms have an incidence of one in 15,000 and the non-classical forms about one in 1,000. The classical or severe phenotype presents in the newborn period or early infancy with virilization and adrenal insufficiency, with or without salt-losing; the non-classical or mild phenotype presents in late childhood or early adulthood with signs of hyperandrogenism. This wide range of clinical expression is explained by genetic variation. Although there is a certain amount of genotype-phenotype correlation, discrepancies have been described. During the last 30 years there has been a substantial improvement in diagnosis and treatment of this disease, and patients with CAH now reach adulthood. Treatment of this condition is intended to reduce excessive corticotropin secretion and replace glucocorticoids and mineralocorticoids as physiologically as possible. Clinical management is often complicated by periods of inadequately treated hyperandrogenism, iatrogenic hypercortisolism, or both. Long-term consequences in adult life may include short stature, obesity, diminished bone mass, gonadal dysfunction with low fertility rates and psychosexual dysfunction in females. New treatment approaches are under investigation, such as the use of anti-androgens, inhibitors of estrogen production and adrenalectomy for severely resistant cases.

Valores normales de los marcadores del recambio óseo durante la infancia / Normal values of bone turnover markers in childhood

Objetivo: Obtener el perfil normal de los marcadores del recambio óseo durante la infancia para poder valorar el estado de mineralización ósea de la población infantil normal y de la población de riesgo para osteoporosis. Pacientes y métodos: Se ha estudiado una población de 75 niños sanos de entre 6 meses y 14 años de edad. Se han determinado en suero los valores de osteocalcina y de propéptido carboxiterminal del procolágeno tipo I como marcadores de aposición ósea y de la hidroxiprolina y las piridinolinas en orina, como marcadores de resorción ósea. Se ha realizado el análisis estadístico de los resultados. Resultados: Los valores más elevados para estos marcadores se han obtenido en los primeros 4 años de vida. A continuación los de resorción ósea presentan una continua disminución estadísticamente significativa hasta los 14 años de edad (p < 0,05), mientras que los de aposición ósea descienden ligeramente a partir de los 4 años y se mantienen posteriormente estables hasta los 14 años. Discusión: Este comportamiento es compatible con la presencia de un intenso recambio óseo durante los 4 primeros años, y con un predominio de los fenómenos de aposición ósea a lo largo de los primeros 14 años de vida. El conocimiento de los valores normales de dichos marcadores permite valorar el estado de la mineralización ósea de la población infantil normal y de la población de riesgo para osteoporosis (AU)

[Normal values of bone turnover markers in childhood]. / Valores normales de los marcadores del recambio óseo durante la infancia.

OBJECTIVE: To determine the normal profile of bone turnover markers in childhood in order to enable evaluation of bone mineralization status in the healthy pediatric population and in the population at risk of osteoporosis. PATIENTS AND METHODS: A population of 75 healthy children aged between 6 months and 14 years was studied. Levels of osteocalcin and C-terminal procollagen peptide type I, as markers of bone apposition, were determined in serum. Levels of hydroxyproline and pyridinoline, as markers of bone resorption, were determined in urine samples. Statistical analysis of the results was performed. RESULTS: The highest levels of the four markers were obtained in the first 4 years of life. Markers of bone resorption showed a continuous statistically significant decrease until the age of 14 years (p < 0.05), whereas markers of bone apposition decreased slightly after the age of 4 years and then remained stable until the age of 14 years. DISCUSSION: These findings are compatible with the presence of intense bone turnover in the first 4 years of life and with a predominance of the phenomenon of bone apposition throughout the first 14 years of life. Knowledge of the normal profile of these markers allows evaluation of bone mineralization status in the healthy pediatric population and in the population at risk of osteoporosis.

Estado en la edad adulta y propuesta de optimización terapéutica de la hiperplasia suprarrenal congénita / No disponible

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Masa ósea en pediatría. Valoración por métodos incruentos: radiogrametría metacarpiana / Bone mass in pediatrics. Assessment by non-invasive methods: metacarpal radiogrammetry

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[Bone mass evolution in patients with precocious and advanced puberty treated with LHRH analogs]. / Evolución de la masa ósea de pacientes con pubertad precoz y pubertad adelantada tratados con análogos de LHRH.

OBJECTIVE: Our aim was to know the long-term effects of treatment with LHRH analogs on the bone mass of patients with precocious or advanced puberty. PATIENTS AND METHODS: Forty-six patients (11 boys and 35 girls) received a-LHRH throughout a 2-year period. The diagnoses were precocious or advance puberty alone or associated to other pathologies. The bone mass was indirectly estimated by measuring the cortical thickness (CT) and the metacarpal diameter (BD) of the 2nd, 3rd, and 4th metacarpals, taking as a reference values the results of the longitudinal Aragonese study of the "Andrea Prader" Center. RESULTS: The CT was 1.3 SD at the beginning and decreased to 0.3 SD (p < 0.002) by the end of therapy and continuing losing to reach 0.1 SD after withdrawal. The BA decreased from 0.8 SD to 0.7 SD (p < 0.0002) and continued decreasing to reach 0.5 SD after withdrawal (p < 0.05). The BD went from -0.64 to -0.62 and to -0.9 SD (p < 0.04) after withdrawal. The longitudinal study of the same 18 cases gave similar results. No significant difference was found between sexes. CONCLUSIONS: In precocious or advance puberty, the bone age and the cortical thickness are increased. After two years of treatment with a-LHRH both decreased significantly and stabilized one year after its suppression. The BD does not change during the treatment, but continues losing value thereafter. This loss of bone mass, not well known in this pediatric situation, is probably related to estrogen deprivation and needs the attention of the physician in order to take possible preventative measures.