Nephrology Division, University of Alabama at Birmingham, Birmingham, AL, USA.
Am J Kidney Dis. 2013 Feb;61(2):337-41. doi: 10.1053/j.ajkd.2012.06.028. Epub 2012 Sep 6.
Vitamin D-resistant rickets is the common clinical outcome of multiple genetic mutations that alter the regulation of phosphorus and vitamin D metabolism, mainly through their effects on fibroblast growth factor 23 (FGF-23). These diseases typically present in childhood with the classic physical examination finding of nutritional rickets, such as genu varum/valgum and rachitic rosary. Treatment, which is aimed at improving severe bone disease with vitamin D and phosphorus supplementation, can cause secondary hyperparathyroidism and/or kidney failure from nephrocalcinosis over the life of the patient. Although FGF-23 has been shown to downregulate parathyroid hormone in vitro, its effect on parathyroid secretion in disease states such as chronic kidney disease and X-linked hypophosphatemic rickets is unclear because elevations in FGF-23 and parathyroid hormone levels characterize both of these disease states. We describe a case of vitamin D-resistant rickets that presented with a femur fracture through a brown tumor. Radiographs show the combination of severe bony abnormalities associated with both long-standing hyperparathyroidism and vitamin D-resistant rickets.
抗维生素 D 性佝偻病是多种基因突变导致磷和维生素 D 代谢调节异常的常见临床结果，主要通过其对成纤维细胞生长因子 23（FGF-23）的影响。这些疾病通常在儿童期表现为营养性佝偻病的典型体格检查发现，如膝内翻/外翻和佝偻病串珠。治疗旨在通过维生素 D 和磷补充改善严重的骨骼疾病，但可能会导致继发性甲状旁腺功能亢进和/或因肾钙质沉着症导致肾功能衰竭。尽管已经证明 FGF-23 在体外可下调甲状旁腺激素，但在慢性肾脏病和 X 连锁低磷血症性佝偻病等疾病状态下，其对甲状旁腺分泌的影响尚不清楚，因为这两种疾病状态都伴有 FGF-23 和甲状旁腺激素水平的升高。我们描述了一例抗维生素 D 性佝偻病病例，该患者通过棕色瘤发生股骨骨折。X 线片显示严重的骨骼异常，与长期甲状旁腺功能亢进和抗维生素 D 性佝偻病均有关。
