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

NCT ID: NCT05972408

Last Updated: 2024-06-10

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 84 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-03-21
• Study Completion Date: 2024-01-19

Brief 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

percutaneous nephrlolithotomy

Endoscopic removal of renal stones

Intervention Type: PROCEDURE

VDR gene, CASR gene

checking possible mutations of VDR and CASR genes

Intervention Type: GENETIC

Eligibility Criteria

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 "α" 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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Mansoura University

OTHER

Sponsor Role: lead

Responsible Party

Ahmed Abolazm

Lecturer

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Mansoura University

Al Mansurah, Outside U.S./Canada, Egypt

Countries

Egypt

References

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.

Reference Type: BACKGROUND

PMID: 27644547 (View on PubMed)

Other Identifiers

MD.21.02.426

Identifier Type: -

Identifier Source: org_study_id