Navarro J F, Teruel J L, Montalban C, Gallego N, Ortuño J
Department of Nephrology, Hospital Ramón y Cajal, Madrid, Spain.
Miner Electrolyte Metab. 1994;20(5):255-8.
A 41-year-old man presented with back pain, osteoporosis and vertebral crushing. Laboratory studies revealed persistent hypophosphatemia, normocalcemia and elevated levels of 1,25-dihydroxy-vitamin D. Other mineral metabolism tests showed a low tubular maximal phosphate reabsorption per glomerular filtrate, an absorptive hypercalciuria and a normal intestinal absorption of phosphate. Hyperparathyroidism was ruled out by an intravenous calcium loading test. Bone histopathology was consistent with osteomalacia. Treatment with phosphate supplements resulted in resolution of symptoms and normalization of laboratory parameters. To our knowledge, this can be a sporadic form of a disorder recently described: hereditary hypophosphatemic rickets with hypercalciuria.
一名41岁男性出现背痛、骨质疏松和椎体压缩。实验室检查显示持续性低磷血症、血钙正常以及1,25 - 二羟维生素D水平升高。其他矿物质代谢检查显示每肾小球滤过液的肾小管最大磷重吸收降低、吸收性高钙尿症以及肠道磷吸收正常。静脉钙负荷试验排除了甲状旁腺功能亢进。骨组织病理学与骨软化症相符。补充磷酸盐治疗使症状缓解且实验室指标恢复正常。据我们所知，这可能是最近描述的一种疾病的散发性形式：伴有高钙尿症的遗传性低磷性佝偻病。
