Adenine Phosphoribosyltransferase Deficiency, Cystinuria, Dent Disease, Hyperoxaluria, Lowe Syndrome
Conditions
Keywords
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
Brief 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.
Detailed 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.
Interventions
None listed
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| inflammatory blood and urinary biomarkers | Annually for 5 years | Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Longitudinal changes in eGFR | Annually for 5 years | changes in eGFR during the 5 years |
Countries
Canada, Iceland, Israel, United States
Contacts
CONTACTBarb Seide
CONTACTJulie Olson, RN
PRINCIPAL_INVESTIGATORJohn Lieske, MD
Mayo Clinic
Outcome results
None listed