Role Of Phosphorus And FGF 23 In Patients With Dent Disease

Inclusion Criteria:

1. Patients will be recruited from those in the RKSC Dent Registry

Diagnostic criteria for Dent disease include:

A. 1. LMWP (at least 5 times above the upper limit of normal) and at least 1 of the
following criteria: 1. Hypercalciuria, 2. Kidney stones, 3. Nephrocalcinosis, 4.
Hypophosphatemia, 5. Renal phosphate leak, 6. Aminoaciduria, 7. Glucosuria without
diabetes mellitus, 8. Hematuria, 9. Renal insufficiency, 10. Family history with
x-linked inheritance or B. 1 of the above criteria (1-9) and confirmed genetic
mutation of CLCN5 or OCRL1.

2. Idiopathic calcium nephrolithiasis with renal phosphate leak

1. Male patients > 18 years old

2. History of symptomatic calcium oxalate or calcium phosphate stone, hypercalciuria
(>250 mg/24 hrs), renal phosphate leak (TMP/GFR <2.07 mg/dl)

3. Idiopathic calcium nephrolithiasis without renal phosphate leak

1. Male patients > 18 years old

2. History of symptomatic calcium oxalate or calcium phosphate stone, hypercalciuria
(>250 mg/24 hrs), renal phosphate leak (TMP/GFR <2.07 mg/dl)

Exclusion Criteria:

1. Exclusion for Dent disease include: primary or secondary hyperparathyroidism,
hyperthyroidism, chronic diarrhea states; intake of thiazide diuretics,
glucocorticoids, or estrogens within one month of the study.

2. Exclusion criteria for calcium stone formers include: primary or secondary
hyperparathyroidism, hyperthyroidism, estimated GFR <40 ml/mn/1.73m2, chronic diarrhea
states; intake of thiazide diuretics, glucocorticoids, or estrogens within one month
of the study.

3. Exclusion criteria include history of symptomatic or asymptomatic kidney stone
disease; primary or secondary hyperparathyroidism; estimated GFR <40 ml/min/1.73m2,
chronic diarrhea states; intake of thiazide diuretics, glucocorticoids, or estrogens
within one month of the study.