Dent Disease
Conditions
Keywords
Dent, Dents, Dent Disease, Phosphorus Supplements, FGF 23
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.
Interventions
DRUGPhosphorus Supplement
250 mg po qid
OTHERObservation
Baseline blood and urine measurements only
Sponsors
Mayo Clinic
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Dent Disease Intervention Dent Disease subjects will receive 2 week supplementation with phosphorus
Phosphorus Supplement: 250 mg po qid | 10 |
| Kidney Stone Subjects Kidney stone with or without phosphate leak subjects will receive 2 week supplementation with phosphorus
Phosphorus Supplement: 250 mg po qid | 10 |
| Dent Disease Observation Dent disease subjects will not get phosphorus
Observation: Baseline blood and urine measurements only | 10 |
| Total | 30 |
Baseline characteristics
| Characteristic | Kidney Stone Subjects | Dent Disease Observation | Total | Dent Disease Intervention |
|---|---|---|---|---|
| Age, Continuous | 55.3 years STANDARD_DEVIATION 14.6 | 10.2 years STANDARD_DEVIATION 1.3 | 30.6 years STANDARD_DEVIATION 9.3 | 26.4 years STANDARD_DEVIATION 12 |
| Race and Ethnicity Not Collected | — | — | 0 Participants | — |
| Region of Enrollment United States | 10 participants | 10 participants | 30 participants | 10 participants |
| Sex: Female, Male Female | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Sex: Female, Male Male | 10 Participants | 10 Participants | 30 Participants | 10 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk |
|---|---|---|---|
| deaths Total, all-cause mortality | 0 / 10 | 0 / 10 | 0 / 10 |
| other Total, other adverse events | 0 / 10 | 0 / 10 | 0 / 10 |
| serious Total, serious adverse events | 0 / 10 | 0 / 10 | 0 / 10 |
Outcome results
Primary
Change in Urine Total Protein
Urine protein tests detect and/or measure protein being released into the urine. Normal urine protein elimination is less than 150 mg/day
Time frame: baseline, day 7
Population: Data were not collected for the Disease Dent Observation Group
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Dent Disease Intervention | Change in Urine Total Protein | 1681 mg/day | Standard Deviation 979 |
| Kidney Stone Subjects | Change in Urine Total Protein | 59 mg/day | Standard Deviation 38 |