Nutrition recommendations for patients with pseudohypoparathyroidism.

Pseudohypoparathyroidism (PHP) is a spectrum of diseases characterized by insensitivity of target tissues to the action of parathyroid hormone and, consequently, by the presence of hyperphosphatemia and hypocalcaemia of varying severity. Early-onset obesity is a feature of PHP type 1A. This article discusses the need to establish uniform criteria to guide the nutritional management of patients with PHP. A decrease in energy expenditure calls for an adjustment of the energy content of the diet. Reducing the intake of foods rich in inorganic phosphorus helps to manage hyperphosphataemia. Targeted nutrition should be part of the treatment plan of children and adolescents with PHP, since it contributes to modulating the calcium and phosphorus metabolism imbalances characteristic of these patients.

Variaciones y diferentes percepciones en la suplementación con vitamina D en la edad pediátrica en España / Variations and different perceptions in vitamin D supplementation in paediatric age in Spain

Introducción: el raquitismo es un problema de salud a nivel global. La deficiencia de vitamina D se ha convertido en una pandemia, su interés ha aumentado por la implicación de la misma en múltiples acciones extraesqueléticas. Material y métodos: se realizó una encuesta a través de correo electrónico entre pediatras españoles para estudiar su actitud en relación con la suplementación profiláctica de vitamina D. Resultados: un 83% de los pediatras tienen políticas de profilaxis de vitamina D en su área. Un 61,6% inicia la profilaxis en las dos primeras semanas y un 81,5% la mantiene el primer año. Un 57,2% realiza una búsqueda de deficiencia de vitamina D, sobre todo si trabajan en medio hospitalario. Conclusiones: las políticas de profilaxis con vitamina D son bastantes uniformes. Más de la mitad de los pediatras españoles realizan una búsqueda sistemática mediante analítica de deficiencia de vitamina D en sus pacientes con factores de riesgo durante la infancia y adolescencia (AU)

Introduction: rickets is a global health problem. Vitamin D deficiency has become a pandemic, its interest has increased due to its implication in multiple extraskeletal actions.Material and methods: a survey was conducted by e-mail among spanish paediatricians to study their attitude regarding prophylactic vitamin D supplementation.Results: 83% of pediatricians have vitamin D prophylaxis policies in their area. 61.6% start prophylaxis in the first two weeks, 81.5% maintain it the first year. 57.2% search for vitamin D deficiency, especially if they work in a hospital.Conclusions: vitamin D prophylaxis policies are uniform. More than a half of Spanish pediatricians conduct a systematic search for vitamin D deficiency in their patients with risk factors during childhood and adolescence (AU)

Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento / Achondroplasia: Update on diagnosis, follow-up and treatment

La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social. Esta revisión se justifica por las múltiples publicaciones generadas en los últimos años que han llevado a cabo un cambio en su gestión. Se han desarrollado diferentes guías y recomendaciones, entre las que destacan la realizada por la Academia Americana de Pediatría en 2005 recientemente actualizada (2020), la guía japonesa (2020), el primer Consenso Europeo (2021) y el Consenso Internacional sobre el diagnóstico, abordaje, enfoque multidisciplinario y manejo de individuos con acondroplasia a lo largo de la vida (2021). Sin embargo, y a pesar de estas recomendaciones, actualmente existe una gran variabilidad a nivel mundial en el manejo de las personas con acondroplasia, con consecuencias médicas, funcionales y psicosociales en los pacientes y sus familias. Por ello, es fundamental integrar estas recomendaciones en la práctica clínica diaria, teniendo en cuenta la situación particular de cada sistema sanitario. (AU)

Achondroplasia requieres a multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system. (AU)

Achondroplasia: Update on diagnosis, follow-up and treatment.

Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.

Recomendaciones de práctica clínica para el diagnóstico y el tratamiento de la hipofosfatemia ligada al cromosoma X: un consenso basado en el método ADAPTE / Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method

Antecedentes y objetivoEl objetivo de este proyecto fue adaptar la primera guía de práctica clínica en la hipofosfatemia ligada al cromosoma X (XLH) aparecida en 2019 a nuestro medio siguiendo un proceso sistemático basado en el método ADAPTE.Materiales y métodosLa adaptación de las guías a nuestro ámbito de aplicación e implementación se llevó a cabo en 3 fases —puesta en marcha, adaptación y finalización— mediante un grupo de expertos implicados en el manejo de los pacientes con XLH.ResultadosSiguiendo la guía original, se presentan las recomendaciones acordadas por el grupo elaborador de las guías para el diagnóstico, la frecuencia y el ámbito de las visitas y el seguimiento específico en niños y adultos. Por otro lado, se establecen las recomendaciones para ambas franjas de edad con tratamiento convencional, así como con burosumab en niños o adultos y las relacionadas al controvertido uso de hormona de crecimiento en niños. También se proponen sugerencias en cuanto al seguimiento y al manejo de las alteraciones del aparato locomotor y tratamiento ortopédico en niños, la salud dental y la audición y las complicaciones neuroquirúrgicas. Por último, se plantean una serie de cuestiones y áreas en las que profundizar en una posible investigación futura.ConclusionesEstas recomendaciones constituyen la adaptación sistemática a nuestro medio de la primera guía de práctica clínica basada en la evidencia para el diagnóstico y el manejo de la XLH, y esperamos que pueda contribuir al manejo adecuado de la enfermedad. (AU)

Background and objectiveThe objective of this project was to adapt to our setting following a systematic process based on the ADAPTE method the first clinical practice guidelines on X-linked hypophosphatemia (XLH) that were published in 2019.Materials and methodsThe adaptation of the guidelines to our application and implementation setting was carried out in three phases —start-up, adaptation, and finalization— by a group of experts involved in the management of patients with XLH.ResultsFollowing the original guide, the recommendations agreed by the group that elaborated the guidelines for diagnosis, frequency and scope of visits and specific follow-up in children and adults are presented. On the other hand, recommendations are established for both age groups with conventional treatment, as well as with burosumab in children or adults and those related to the controversial use of growth hormone in children. Suggestions are also proposed regarding the monitoring and management of musculoskeletal disorders and orthopedic treatment in children, dental health and hearing, and neurosurgical complications. Finally, a series of questions and areas are raised in order to deepen the possible future investigation.ConclusionsThese recommendations constitute the systematic adaptation to our setting of the first evidence-based clinical practice guide for the diagnosis and management of XLH and we hope that they can contribute to the adequate management of the disease. (AU)

Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: A consensus based on the ADAPTE method. / Recomendaciones de práctica clínica para el diagnóstico y el tratamiento de la hipofosfatemia ligada al cromosoma X: un consenso basado en el método ADAPTE.

BACKGROUND AND OBJECTIVE: The objective of this project was to adapt to our setting following a systematic process based on the ADAPTE method the first clinical practice guidelines on X-linked hypophosphatemia (XLH) that were published in 2019. MATERIALS AND METHODS: The adaptation of the guidelines to our application and implementation setting was carried out in three phases -start-up, adaptation, and finalization- by a group of experts involved in the management of patients with XLH. RESULTS: Following the original guide, the recommendations agreed by the group that elaborated the guidelines for diagnosis, frequency and scope of visits and specific follow-up in children and adults are presented. On the other hand, recommendations are established for both age groups with conventional treatment, as well as with burosumab in children or adults and those related to the controversial use of growth hormone in children. Suggestions are also proposed regarding the monitoring and management of musculoskeletal disorders and orthopedic treatment in children, dental health and hearing, and neurosurgical complications. Finally, a series of questions and areas are raised in order to deepen the possible future investigation. CONCLUSIONS: These recommendations constitute the systematic adaptation to our setting of the first evidence-based clinical practice guide for the diagnosis and management of XLH and we hope that they can contribute to the adequate management of the disease.