Kollerova Jana, Koller Tomas, Zelinkova Zuzana, Kostalova Ludmila, Payer Juraj
5th Department of Internal Medicine, Faculty of Medicine, Comenius University, Ruzinovska 6, 82606 Bratislava, Slovakia.
2nd Department of Pediatrics, Faculty of Medicine, Comenius University, Limbova 1, 83340 Bratislava, Slovakia.
Case Rep Endocrinol. 2013;2013:589872. doi: 10.1155/2013/589872. Epub 2013 Nov 28.
McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions-precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.
McCune-Albright综合征是一种罕见的遗传性疾病,具有典型的骨骼和内分泌表现。疾病过程因多骨型纤维性发育不良导致的反复骨折而复杂化,因此治疗主要针对降低骨折风险。然而,由于骨骼损伤的机制复杂,标准的抗骨质疏松治疗方法无效。我们在此报告一例31岁女性病例,她在幼儿期被诊断为McCune-Albright综合征。尽管接受了双膦酸盐治疗,但她仍患有广泛的骨骼受累,并伴有反复骨折。此外,病程因多种内分泌功能受损而复杂化——性早熟、高雌激素血症和甲状腺功能亢进,为此她接受了甲状腺全切除术。手术期间,切除了两个肿大的甲状旁腺。这导致术后出现严重低钙血症,需要补充非常高剂量的钙和维生素D。在此事件之后,患者未再发生骨折。我们在此讨论甲状腺功能的纠正、非常规高剂量维生素D和钙的补充以及双膦酸盐治疗的终止,这些可能是导致该患者骨折风险降低的因素。