Prospective Research Rare Kidney Stones (ProRKS)
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.
Inclusion Criteria:
- Diagnosis of primary hyperoxaluria
- Diagnosis of enteric hyperoxaluria
- Diagnosis of Dent Disease
- Diagnosis of Cystinuria
- Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
- Diagnosis of Lowe Syndrome
- Diagnosis of Dent Disease Carrier
Exclusion Criteria:
- Prior renal failure
- History of liver and/or kidney transplant.
Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
primary hyperoxaluria, Dent Disease, enteric hyperoxaluria, cystinuria, Lowe Syndrome, Adenine phosphoribosyltransferase deficiency, PH, APRTd, APRT, hyperoxaluria, oxalate, oxalosis, PH type 1, PH type 2, PH type 3, Dents, Dent, Dent 1, Dent 2, APRT deficiency