Prospective Research Rare Kidney Stones (ProRKS)

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 diseases. The investigators will collect
longitudinal data of individual patients in order to provide clues about potentially
modifiable factors that influence disease severity and identify factors leading to kidney
injury. the investigator will measure blood and urinary markers of inflammation and determine
relationship to the disease course. Cross-comparisons among the disorders will allow to
better evaluate mechanisms of renal dysfunction in these diseases.

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.