Prospective Research Rare Kidney Stones (ProRKS)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- Mayo Clinic
- 入组人数
- 220
- 试验地点
- 17
- 主要终点
- inflammatory blood and urinary biomarkers
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Prior renal failure
- •History of liver and/or kidney transplant.
研究组 & 干预措施
Primary Hyperoxaluria Patients
Patients with confirmed diagnosis of Primary Hyperoxaluria.
Dent Disease Patients
Patients with confirmed diagnosis of Dent Disease.
Cystinuria Patients
Patients with confirmed diagnosis of Cystinuria.
APRT deficiency Patients
Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
Lowe Syndrome or Dent 2 patients
Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.
Dent 1 carriers
Patients with confirmed diagnosis of Dent 1. Dent 1 carriers
Enteric Hyperoxaluria Patients
Patients with confirmed diagnosis enteric hyperoxaluria.
结局指标
主要结局
inflammatory blood and urinary biomarkers
时间窗: Annually for 5 years
Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values
次要结局
- Longitudinal changes in eGFR(Annually for 5 years)
