Prospective Research Rare Kidney Stones (ProRKS)

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Prospective Research Rare Kidney Stones (ProRKS)

Conditions
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Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Primary Hyperoxaluria Patients<br>Patients with confirmed diagnosis of Primary Hyperoxaluria. | |
| Dent Disease Patients<br>Patients with confirmed diagnosis of Dent Disease. | |
| Cystinuria Patients<br>Patients with confirmed diagnosis of Cystinuria. | |
| APRT deficiency Patients<br>Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd) | |
| Lowe Syndrome or Dent 2 patients<br>Patients with confirmed diagnosis of Lowe Syndrome or Dent 2. | |
| Dent 1 carriers<br>Patients with confirmed diagnosis of Dent 1. Dent 1 carriers | |
| Enteric Hyperoxaluria Patients<br>Patients with confirmed diagnosis enteric hyperoxaluria. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| inflammatory blood and urinary biomarkers | Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values | Annually for 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Longitudinal changes in eGFR | changes in eGFR during the 5 years | Annually for 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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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