Role Of Phosphorus And FGF 23 In Patients With Dent Disease

• Status: Completed
• Trial end date: 2019-01-01
• Target enrollment: 0
• Participant gender: Male

Summary

Patients with Dent disease have suppressed levels of FGF 23 which contributes to hypercalciuria, kidney stones, nephrocalcinosis and renal failure. Supplementation with phosphorus may reduce hypercalciuria.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Mayo Clinic

Criteria

Inclusion Criteria:

Patients will be recruited from those in the RKSC Dent Registry

1. Diagnostic criteria for Dent disease Observational arm include:

1. <18 years old

2. 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

3. 1 of the above criteria (1-9) and confirmed genetic mutation of CLCN5 or OCRL1.

2. Diagnostic criteria for Dent disease Intervention arm include:

1. >18 years old

2. 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

3. 1 of the above criteria (1-9) and confirmed genetic mutation of CLCN5 or OCRL1.

3. 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)

4. 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.