纤维发育不良/McCuneAlbright综合征(FD/MAS)由于GNAS基因的体细胞功能获得性突变而代表了广泛的疾病。该突变导致靶组织中的过度活性和临床特征的广泛表型,所述表型在发病的严重程度和年龄上不同。该疾病的稀有性及其对多种专业的可变表现通常会导致误诊和研究和治疗中的不适当变异性。为了解决这个问题,我们的国际临床医生联盟,研究人员,和患者的倡导者已经为定义的最佳临床实践制定了实用的临床指南,诊断,分期,FD/MAS的治疗和监测,以增强患者的能力,并支持普通和专业医疗保健环境中的临床团队。由于缺乏强有力的证据来告知护理,该指南是根据对已发表文献的回顾而制定的,作者的长期丰富经验,来自其他参与FD/MAS患者护理的医疗保健专业人员的意见,以及来自全球患者和患者组的反馈。这导致制定了一套声明,以告知医疗保健专业人员,病人,他们的家人,护理人员和患者群体的最佳护理实践。预计这些建议的实施将导致国际上FD/MAS患者护理的改善。
Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients\' advocates has developed pragmatic clinical
guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the
guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally.