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

Renal Calculi Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05972408
• Other study ID #: MD.21.02.426
• Status: Recruiting
• Phase: N/A
• Start date: March 21, 2021
• Est. completion date: September 2023

Study information

• Verified date: July 2023
• Source: Mansoura University
• Contact: Ahmed Elhussein Abolazm, MsC
• Phone: +20502202222
• Email: ahmedelhussein[@]mans.edu.eg
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 700
• Est. completion date: September 2023
• Est. primary completion date: September 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• All patients with unilateral or bilateral renal stones (de novo or recurrent) who were candidates for endoscopic or surgical intervention were included. Metabolic workup was done for selected patients with radio-opaque stones, while genetic testing was done for those with dominant Ca composition proven by postoperative stone analysis. Thirty healthy individuals with no urologic abnormalities were involved as control cases. Patients with renal calculi for whom metabolic and genetic testing were performed are designated "a" cases.

Exclusion Criteria:

• For metabolic and genetic testing, patients with a well-known lesion precipitating stone disease were excluded e.g. ureteric stricture, ureteropelvic or ureterovesical junction obstruction, urinary diversion, history of ureterovesical re-implantation as well as patients with non-Ca stones by post-operative stone analysis

Related Conditions & MeSH terms

• Calculi
• Kidney Calculi
• Nephrolithiasis
• Renal Calculi

Intervention

Procedure:
• percutaneous nephrlolithotomy
Endoscopic removal of renal stones

Genetic:
• VDR gene, CASR gene
checking possible mutations of VDR and CASR genes

Locations

Country	Name	City	State
Egypt	Mansoura University	Mansoura	Outside U.S./Canada

Sponsors (1)

Lead Sponsor	Collaborator
Mansoura University

Country where clinical trial is conducted

Egypt, 

References & Publications (1)

Wang C, Lu J, Lang Y, Liu T, Wang X, Zhao X, Shao L. Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones. Sci Rep. 2016 Sep 20;6:33652. doi: 10.1038/srep33652. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	prevalence of Ca-based renal stones	Prevalence of Ca stones among patients with kidney stone disease admitted in Mansoura UNC throughout the study duration.; Identification of metabolic derangement and genomic alterations in patients with renal Ca stones (CASR, and VDR genes)	two years
Secondary	Stone recurrence	Evaluation of the possible correlation of detected genomic mutations with stone recurrence at 2 years following stone management.	two years