Study of Rare Hereditary and Acquired Kidney Stone Diseases Including Primary Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, APRT Deficiency, and Enteric Hyperoxaluria

What this Trial Is About

Researchers are studying rare hereditary and acquired kidney stone diseases, including primary hyperoxaluria, cystinuria, Dent disease, adenine phosphoribosyltransferase deficiency APRTd, Lowe syndrome, and enteric hyperoxaluria. These conditions cause repeated kidney stones and increase the risk of chronic kidney disease due to crystal buildup. The study aims to understand the natural history of these diseases by comparing them and analyzing how kidney function is affected over time. Participants with confirmed diagnoses of these rare kidney stone disorders will be observed over several years. The study involves collecting data on blood and urinary markers of inflammation and tracking how these relate to disease progression. Different patient groups representing each diagnosis will be followed to identify factors that influence disease severity and kidney injury. Participants will provide blood and urine samples annually for up to five years to measure inflammation markers and monitor kidney function through estimated glomerular filtration rate eGFR. The study collects detailed longitudinal data to observe changes and cross-compare these disorders. The total participation time spans several years, with yearly assessments to help researchers better understand disease mechanisms and progression.

Prospective Research Rare Kidney Stones (ProRKS)