NCT05972408

Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based Stones Among Patients With Renal Calcular Disease in Mansoura Urology and Nephrology Center

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 84 (actual)
• Sponsor: Mansoura University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based stones among Patients with Renal Calcular Disease in Mansoura Urology and Nephrology Center

Detailed description

Back ground: Nephrolithiasis is a prevalent disease with high morbidity, the incidence and prevalence of nephrolithiasis has risen worldwide. Calcium nephrolithiasis may be considered as a complex disease having multiple pathogenic mechanisms and characterized by various clinical manifestations. Both genetic and environmental factors may increase susceptibility to calcium stones. Polymorphisms of vitamin D receptor (VDR), calcium-sensing receptor gene (CASR) and AGXT have been associated with risk of urolithiasis, but, with inconsistent results and lack data from Egyptian population. Objective: Therefore, the present study aims to investigate the prevalence, mutational profile for these genes in patients with Ca-based stones, admitted to Mansoura Urology and Nephrology Center. Methodology: In this study, employing sequencing of the coding exons of the calcium-sensing receptor gene (CASR), vitamin D receptor (VDR) and AGXT for a 50 of Egyptian calcium kidney stone-formers and 20 control subjects. The results of the mutational profile data will be correlated with risk of stone recurrence over 2 years.

Conditions

• Renal Calculi

Interventions

Type	Name	Description
PROCEDURE	percutaneous nephrlolithotomy	Endoscopic removal of renal stones
GENETIC	VDR gene, CASR gene	checking possible mutations of VDR and CASR genes

Timeline

• Start date: 2021-03-21
• Primary completion: 2023-09-21
• Completion: 2024-01-19
• First posted: 2023-08-02
• Last updated: 2024-06-10

Locations

1 site across 1 country: Egypt