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.
Diagnosis of primary hyperoxaluria
Diagnosis of enteric hyperoxaluria
Diagnosis of Dent Disease
Diagnosis of Cystinuria
Prior renal failure
History of liver and/or kidney transplant.
Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria
Cohort
Prospective
Not listed
7
Trial groupsSee each trial group below.
inflammatory blood and urinary biomarkers
Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values
Longitudinal changes in eGFR
changes in eGFR during the 5 years
Development of new onset CKD
Development of new onset CKD stage 4 (eGFR\<30) or stage 5 (eGFR\<15)
Lithogenic substances in the urine
Quantity of change in the substance in the urine
Protein in the urine
change in protein in the urine
Stone events
change in number of stone events
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