Prospective Research Rare Kidney Stones (ProRKS)
Mayo Clinic
Summary
The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.
Description
Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients with these disorders experience recurring stones from childhood and are at high risk for chronic kidney disease caused by crystal nephropathy. Enteric hyperoxaluria is an acquired disease characterized by hyperoxaluria and calcium oxalate crystal nephropathy associated with chronic kidney disease, and in that respect similar to the inherited stone disea…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Diagnosis of primary hyperoxaluria 2. Diagnosis of enteric hyperoxaluria 3. Diagnosis of Dent Disease 4. Diagnosis of Cystinuria 5. Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd) 6. Diagnosis of Lowe Syndrome 7. Diagnosis of Dent Disease Carrier Exclusion Criteria: 1. Prior renal failure 2. History of liver and/or kidney transplant.
Locations (11)
- University of Alabama @ BirminghamBirmingham, Alabama
- Mayo Clinic JacksonvilleJacksonville, Florida
- Children's Memorial HospitalChicago, Illinois
- Children's Hospital, Harvard Medical SchoolBoston, Massachusetts
- Mayo Clinic Hyperoxaluria CenterRochester, Minnesota
- New York UniversityNew York, New York