Role Of Phosphorus And FGF 23 In Patients With Dent Disease
- Registration Number
- NCT02016235
- Lead Sponsor
- Mayo Clinic
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- Male
- Target Recruitment
- 30
Inclusion Criteria
Patients will be recruited from those in the RKSC Dent Registry
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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.
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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.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Dent Disease Intervention Phosphorus Supplement Dent Disease subjects will receive 2 week supplementation with phosphorus Dent Disease Observation Observation Dent disease subjects will not get phosphorus Kidney Stone subjects Phosphorus Supplement Kidney stone with or without phosphate leak subjects will receive 2 week supplementation with phosphorus
- Primary Outcome Measures
Name Time Method Change in Urine Total Protein baseline, day 7 Urine protein tests detect and/or measure protein being released into the urine. Normal urine protein elimination is less than 150 mg/day
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Mayo Clinic
🇺🇸Rochester, Minnesota, United States