Fighera Tayane Muniz, Spritzer Poli Mara
Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, RS, Brazil.
Laboratory of Molecular Endocrinology, Department of Physiology, Federal University of Rio Grande do Sul, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, RS, Brazil.
Case Rep Endocrinol. 2017;2017:7898713. doi: 10.1155/2017/7898713. Epub 2017 Jun 6.
McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids. The pain was incapacitating and the patient required a wheelchair. Intranasal calcitonin was then started, and, 30 days later, the patient already showed significant improvement in pain severity at the affected sites. After 3 months, she was able to walk without assistance. No adverse effects were observed, nor were any significant changes in serum levels of calcium, phosphorus, and alkaline phosphatase. Calcitonin has a well-recognized analgesic effect on bone tissue. Despite the small number of studies involving patients with MAS, calcitonin may be considered a short-term therapeutic option in cases of severe and refractory bone pain.
McCune - Albright综合征(MAS)是一种罕见疾病,由骨的多骨型纤维性发育不良、咖啡牛奶斑皮肤斑点和性早熟三联征所定义。目前没有有效的治疗方法能够改变骨纤维性发育不良的病程,但有症状的患者需要治疗支持以减轻骨痛并预防骨折和畸形。我们报告一例27岁患有MAS和严重纤维性发育不良的女性病例。她4岁时被诊断为MAS,在随访期间,她发生了多次病理性骨折,且使用双膦酸盐、三环类抗抑郁药和阿片类药物治疗后骨痛仍难以缓解。疼痛使人丧失能力,患者需要轮椅。随后开始使用鼻内降钙素,30天后,患者受影响部位的疼痛严重程度已显著改善。3个月后,她能够在无需帮助的情况下行走。未观察到不良反应,血清钙、磷和碱性磷酸酶水平也未发生任何显著变化。降钙素对骨组织具有公认的镇痛作用。尽管涉及MAS患者的研究数量较少,但对于严重且难治性骨痛的病例,降钙素可被视为一种短期治疗选择。