Study to Identify Genes Causing Monogenic Kidney Stone Diseases and Their Effects

What this Trial Is About

Researchers are studying monogenic kidney stone diseases to identify the specific genes and genetic changes that cause these conditions. The study aims to understand the features of kidney stone disease linked to particular genes and mutations. This knowledge may help in developing better treatments for these rare kidney stone diseases. Participants will provide a blood sample or buccal cell sample for DNA or RNA testing and complete a kidney stone history questionnaire. Family members may also be asked to provide a 24-hour urine collection for additional analysis. Genetic testing will be conducted on these samples, and results will be shared with the participants local doctor. Samples will be stored for future research, but family members of patients without known mutations will not be tested. During the study, participants provide medical and family history information and biological samples for genetic testing. Researchers will evaluate the symptomatic onset of monogenic stone disease over five years and study genotype markers. Participation involves providing samples and questionnaires, with follow-up over time to better understand the disease. The study is observational, focusing on collecting data rather than testing treatments.

Monogenic Kidney Stone - Genetic Testing