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

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

Study Overview

• Status: Completed
• Conditions: Renal Calculi
• Intervention / Treatment: Procedure: percutaneous nephrlolithotomy; Genetic: VDR gene, CASR gene

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.

• Study Type: Observational
• Enrollment (Actual): 84
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Egypt
  • Outside U.S./Canada
    • Mansoura, Outside U.S./Canada, Egypt, 35561
      • Mansoura University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

All patients with unilateral or bilateral renal stones (de novo or recurrent) who were candidates for endoscopic or surgical intervention

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
prevalence of Ca-based renal stones	Prevalence of Ca stones among patients with kidney stone disease admitted in Mansoura UNC throughout the study duration as assessed by infrared spectroscopic stone analysis	two years
Genetic background of Ca based renal stones	Identification of metabolic derangement and genomic alterations in patients with renal Ca stones (CASR, and VDR genes)	two years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Stone recurrence	Evaluation of the possible correlation of detected genomic mutations assessed by genetic analysis with stone recurrence at 2 years following stone management.	two years

Collaborators and Investigators

• Sponsor: Mansoura University

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): March 21, 2021
• Primary Completion (Actual): September 21, 2023
• Study Completion (Actual): January 19, 2024

Study Registration Dates

• First Submitted: July 25, 2023
• First Submitted That Met QC Criteria: July 25, 2023
• First Posted (Actual): August 2, 2023

Study Record Updates

• Last Update Posted (Actual): June 10, 2024
• Last Update Submitted That Met QC Criteria: June 6, 2024
• Last Verified: June 1, 2024

More Information

Terms related to this study

• Keywords: renal calculi, Renal Ca oxalate stones, VDR gene
• Additional Relevant MeSH Terms: Kidney Diseases; Urologic Diseases; Pathological Conditions, Anatomical; Urolithiasis; Urinary Calculi; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Calculi; Kidney Calculi; Nephrolithiasis
• Other Study ID Numbers: MD.21.02.426

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No