Division of Pediatric Endocrinology, University of Tennessee Health Science Center, Memphis, TN, United States.
Division of General Pediatrics, University of Tennessee Health Science Center, Memphis, TN, United States.
Front Endocrinol (Lausanne). 2023 Mar 17;14:1137976. doi: 10.3389/fendo.2023.1137976. eCollection 2023.
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan. With this potential for fulfilling lives as adults comes the need for dedicated transition and intentional care of these patients as adults. Much work has gone into improving the transitions of medically fragile children into adulthood, encompassing endocrinologic conditions like type 1 diabetes mellitus and congenital adrenal hyperplasia. However, there are gaps in the literature regarding similar guidance concerning metabolic bone conditions. This article intends to provide a brief review of research and guidelines for transitions of care more generally, followed by a more detailed treatment of bone disorders specifically. Considerations for such transitions include final adult height, fertility, fetal risk, heritability, and access to appropriately identified specialists. A nutrient-dense diet, optimal mobility, and adequate vitamin D stores are protective factors for these conditions. Primary bone disorders include hypophosphatasia, X-linked hypophosphatemic rickets, and osteogenesis imperfecta. Metabolic bone disease can also develop secondarily as a sequela of such diverse exposures as hypogonadism, a history of eating disorder, and cancer treatment. This article synthesizes research by experts of these specific disorders to describe what is known in this field of transition medicine for metabolic bone diseases as well as unanswered questions. The long-term objective is to develop and implement strategies for successful transitions for all patients affected by these various conditions.
随着越来越精确的诊断工具和靶向治疗方法在儿科代谢性骨病中的应用，受影响的儿童有更好的预后和显著延长的寿命。随着这些儿童有机会作为成年人过上充实的生活，需要专门为他们提供过渡和有意的成年期护理。在改善患有 1 型糖尿病和先天性肾上腺增生等内分泌疾病的脆弱儿童向成年期过渡方面已经做了大量工作。然而，关于代谢性骨病类似指导的文献仍存在空白。本文旨在简要回顾一般过渡护理的研究和指南，然后更详细地讨论具体的骨疾病治疗。此类过渡的考虑因素包括最终成年身高、生育能力、胎儿风险、遗传性和获得适当识别的专家的机会。营养丰富的饮食、最佳的活动能力和充足的维生素 D 储存是这些疾病的保护因素。原发性骨疾病包括低磷酸酶血症、X 连锁低磷酸血症性佝偻病和成骨不全症。代谢性骨病也可能继发于多种暴露，如性腺功能减退、饮食失调史和癌症治疗。本文综合了这些特定疾病专家的研究，描述了在代谢性骨病过渡医学领域中对这些疾病的了解以及未解决的问题。长期目标是为所有受这些各种疾病影响的患者制定和实施成功过渡的策略。
