Hereditary hypophosphatemic rickets with hypercalciuria: Report of a new kindred

Authors
Sermet-Gaudelus, I Garabedian, M Dechaux, M Lenoir, G Rey, J Tieder, M
Citation
I. Sermet-gaudelus et al., Hereditary hypophosphatemic rickets with hypercalciuria: Report of a new kindred, NEPHRON, 88(1), 2001, pp. 83-86
Citations number
11
Categorie Soggetti
Urology & Nephrology","da verificare
Journal title
NEPHRON
ISSN journal
00282766 → ACNP
Volume
88
Issue
1
Year of publication
2001
Pages
83 - 86
Database
ISI
SICI code
0028-2766(200105)88:1<83:HHRWHR>2.0.ZU;2-9
Abstract
We report a new kindred of hereditary hypophosphatemic rickets with hyperca lciuria, The symptomatic child and several relatives had increased renal ph osphate clearance leading to hypophosphatemia, hyperabsorptive hypercalciur ia, low PTH and increased 1,25-(OH)(2)D serum level. However, association w ith vitamin D deficiency and normal urinary excretion of cyclic AMP might s uggest another tubular defect in phosphate transport. Copyright (C) 2001 S. Karger AG, Basel.