Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

  • STATUS
    Recruiting
  • End date
    Jul 20, 2024
  • participants needed
    220
  • sponsor
    Mayo Clinic
Updated on 23 February 2022

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 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.

Details
Condition Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
Clinical Study IdentifierNCT02780297
SponsorMayo Clinic
Last Modified on23 February 2022

Eligibility

Yes No Not Sure

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
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