Resumen ejecutivo del documento consenso OSEOSEEN sobre diagnóstico y manejo de las enfermedades óseas raras

4区医学 Q3 Nursing

Endocrinologia, Diabetes y Nutricion Pub Date : 2026-10-01 Epub Date: 2026-04-08 DOI:10.1016/j.endinu.2026.501803

Beatriz García-Fontana, Cristina García-Fontana, María Dolores López Robles, Verónica Ávila-Rubio, Guillermo Martínez Díaz-Guerra, Pilar Rodríguez Ortega, Mariela Varsavsky, María Rosa Alhambra Expósito, Antonia García-Martín, María Cortés-Berdonces, Fernando Marín Díez, Isabel Huguet, Esteban Jódar-Gimeno, Manuel Muñoz-Torres

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引用次数: 0

Abstract

Rare bone diseases comprise a heterogeneous group of low-prevalence disorders affecting the development, remodeling, or structural integrity of bone tissue. Despite their individual rarity, their clinical, functional, and psychosocial impact is substantial, particularly due to the diagnostic delay that frequently accompanies these conditions. In order to provide a practical and up-to-date clinical tool to improve the identification, diagnostic approach, and management of these entities, an expert consensus document has been developed. The full and extended version is available in the consensus documents section of the manual of the Spanish Society of Endocrinology and Nutrition (SEEN).

This executive summary condenses the essential contents of the document, offering an overview of the diseases addressed, their main clinical and diagnostic features, and the recommended therapeutic strategies. It also includes a final table that comparatively summarizes the most relevant aspects of each entity.

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关于罕见骨病诊断和管理的OSEOSEEN共识文件执行摘要

罕见骨病包括一组影响骨组织发育、重塑或结构完整性的低患病率疾病。尽管个体罕见，但其临床、功能和社会心理影响是巨大的，特别是由于经常伴随这些疾病的诊断延迟。为了提供一个实用的和最新的临床工具来改进这些实体的识别、诊断方法和管理，已经制定了一份专家共识文件。完整和扩展版本可在西班牙内分泌与营养学会（SEEN）手册的共识文件部分获得。本执行摘要浓缩了该文件的基本内容，概述了所讨论的疾病、其主要临床和诊断特征以及推荐的治疗策略。它还包括一个比较总结每个实体最相关方面的最后表格。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrinologia, Diabetes y Nutricion Nursing-Nutrition and Dietetics

CiteScore

2.10

自引率

0.00%

发文量

169

审稿时长

35 days

期刊介绍： Endocrinología, Diabetes y Nutrición is the official journal of the Spanish Society of Endocrinology and Nutrition (Sociedad Española de Endocrinología y Nutrición, SEEN) and the Spanish Society of Diabetes (Sociedad Española de Diabetes, SED), and was founded in 1954. The aim of the journal is to improve knowledge and be a useful tool in practice for clinical and laboratory specialists, trainee physicians, researchers, and nurses interested in endocrinology, diabetes, nutrition and related disciplines. It is an international journal published in Spanish (print and online) and English (online), covering different fields of endocrinology and metabolism, including diabetes, obesity, and nutrition disorders, as well as the most relevant research produced mainly in Spanish language territories. The quality of the contents is ensured by a prestigious national and international board, and by a selected panel of specialists involved in a rigorous peer review. The result is that only manuscripts containing high quality research and with utmost interest for clinicians and professionals related in the field are published. The Journal publishes Original clinical and research articles, Reviews, Special articles, Clinical Guidelines, Position Statements from both societies and Letters to the editor. Endocrinología, Diabetes y Nutrición can be found at Science Citation Index Expanded, Medline/PubMed and SCOPUS.