背景:X连锁低磷酸盐血症是一种遗传起源和多系统受累的孤儿疾病。它的特征是PHEX基因突变,导致FGF23过量产生,肾脏和肠道磷代谢异常,低磷酸盐血症和骨软化症继发于磷酸盐的慢性肾排泄。临床表现包括导致生长异常和骨软化症的低磷血症病,肌病,骨痛和牙脓肿。这些患者向成年生活的转变继续对卫生系统构成挑战,医生,患者和家属。出于这个原因,这一共识的目的是提供一套建议,以促进这一进程,并确保适当的管理和后续行动,以及X连锁低磷酸盐血症患者过渡到成年后的生活质量。
方法:八名拉丁美洲专家参加了共识,其中两名被任命为协调员。根据名义分组技术分6个阶段进行了共识工作:(1)问题标准化,(2)最大选择数的定义,(3)产生单独的解决方案或答案,(4)个别问题审查,(5)信息的分析和综合;(6)澄清和投票的同步会议。在三个投票周期中以80%的赞成票确定存在一项协议。
结论:低磷酸盐血症患者向成人过渡是一个复杂的过程,需要采取综合的方法,考虑到医疗干预和相关护理,以及成人生活的社会心理组成部分和多个利益相关者的参与,以确保成功的过程。协商一致意见根据证据以及专家的知识和经验提出了总共33项建议。建议的目标是在这些患者过渡到成年期间优化管理,考虑到多学科管理的需要,以及该地区最相关的医学和社会心理因素。
BACKGROUND: X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this
consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life.
METHODS: Eight Latin American experts on the subject participated in the
consensus and two of them were appointed as coordinators. The
consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles.
CONCLUSIONS: Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The
consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.