Sermet-Gaudelus I, Garabédian M, Dechaux M, Lenoir G, Rey J, Tieder M
Pediatric Department, Hôpital Necker-Enfants Malades, Paris, France.
Nephron. 2001 May;88(1):83-6. doi: 10.1159/000045964.
We report a new kindred of hereditary hypophosphatemic rickets with hypercalciuria. The symptomatic child and several relatives had increased renal phosphate clearance leading to hypophosphatemia, hyperabsorptive hypercalciuria, low PTH and increased 1,25-(OH)2D serum level. However, association with vitamin D deficiency and normal urinary excretion of cyclic AMP might suggest another tubular defect in phosphate transport.
我们报告了一种新的伴有高钙尿症的遗传性低磷血症佝偻病家系。有症状的患儿及几名亲属的肾磷酸盐清除率增加，导致低磷血症、高吸收性高钙尿症、低甲状旁腺激素水平及血清1,25-(OH)2D水平升高。然而，与维生素D缺乏相关以及环磷酸腺苷的尿排泄正常可能提示磷酸盐转运存在另一种肾小管缺陷。
