Prospective Research Rare Kidney Stones (ProRKS)

Mayo Clinic

Status: Enrolling

Conditions: Hyperoxaluria; Lowe Syndrome; Dent Disease; Adenine Phosphoribosyltransferase Deficiency; Cystinuria

Study type: Observational

Funder types: Other

Identifiers

NCT02780297

16-000494

Details and patient eligibility

About

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.

Full 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.

Enrollment: 220 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

220 participants in 7 patient groups

Primary Hyperoxaluria Patients

Description:

Patients with confirmed diagnosis of Primary Hyperoxaluria.

Dent Disease Patients

Description:

Patients with confirmed diagnosis of Dent Disease.

Cystinuria Patients

Description:

Patients with confirmed diagnosis of Cystinuria.

APRT deficiency Patients

Description:

Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

Lowe Syndrome or Dent 2 patients

Description:

Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.

Dent 1 carriers

Description:

Patients with confirmed diagnosis of Dent 1. Dent 1 carriers

Enteric Hyperoxaluria Patients

Description:

Patients with confirmed diagnosis enteric hyperoxaluria.