Moreira Rodrigo O, Leal Christianne T S, Lacativa Paulo Gustavo S, Figueiredo João Guilherme, Lima Maurício B, Farias Maria Lucia F
Serviço de Endocrinologia, Instituto Estadual de Diabetes e Endocrinologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ.
Arq Bras Endocrinol Metabol. 2006 Feb;50(1):150-5. doi: 10.1590/s0004-27302006000100021. Epub 2006 Apr 17.
Adult-onset hypophosphatemic osteomalacia is a rare disease characterized by hypophosphatemia, increased levels of alkaline phosphatase and decreased bone mass. Oral supplementation with phosphate and vitamin D is the main treatment and, in cases of oncogenic osteomalacia, tumor resection is mandatory. We report the case of a patient with hypophosphatemic osteomalacia of an unknown cause. Despite extensive search, no tumor was found. The patient was treated with phosphate for a long period and developed tertiary hyperparathyroidism. Serum PTH levels did not return to normal after surgical excision of three parathyroids and the patient refused to continue clinical investigation and treatment. After ten years absent from the hospital, during which medications were used irregularly, she was admitted with multiple fractures and respiratory insufficiency caused by severe thoracic deformities, and died. The authors discuss the relationship between osteomalacia and hyperparathyroidism and the aggressive course of the disease.
成人迟发性低磷性骨软化症是一种罕见疾病，其特征为低磷血症、碱性磷酸酶水平升高和骨量减少。口服补充磷酸盐和维生素D是主要治疗方法，对于肿瘤性骨软化症患者，必须进行肿瘤切除。我们报告一例病因不明的低磷性骨软化症患者。尽管进行了广泛检查，但未发现肿瘤。该患者长期接受磷酸盐治疗并发展为三发性甲状旁腺功能亢进。切除三个甲状旁腺后血清甲状旁腺激素水平未恢复正常，患者拒绝继续临床检查和治疗。在离开医院十年期间，患者用药不规律，之后因严重胸廓畸形导致多处骨折和呼吸功能不全入院，并最终死亡。作者讨论了骨软化症与甲状旁腺功能亢进之间的关系以及该疾病的进展过程。
