Role Of Phosphorus And FGF 23 In Patients With Dent Disease

Inclusion criteria

Patients will be recruited from those in the RKSC Dent Registry

• Diagnostic criteria for Dent disease Observational arm include:

• <18 years old
• 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
• 1 of the above criteria (1-9) and confirmed genetic mutation of CLCN5 or OCRL1.
• Diagnostic criteria for Dent disease Intervention arm include:

• >18 years old
• 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
• 1 of the above criteria (1-9) and confirmed genetic mutation of CLCN5 or OCRL1.
• Idiopathic calcium nephrolithiasis with renal phosphate leak

• Male patients > 18 years old
• History of symptomatic calcium oxalate or calcium phosphate stone, hypercalciuria (>250 mg/24 hrs), renal phosphate leak (TMP/GFR <2.07 mg/dl)
• Idiopathic calcium nephrolithiasis without renal phosphate leak

• Male patients > 18 years old
• 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

• 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.
• 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.
• 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.