Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred.

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)(2)D serum level. However, association with vitamin D deficiency and normal urinary excretion of cyclic AMP might suggest another tubular defect in phosphate transport. Copyright (C) 2001 S. Karger AG, Basel.