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NCT Number: NCT05972408

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

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Key information

Conditions

Renal Calculi Calculi Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Kidney Calculi Kidney Diseases Male Urogenital Diseases Nephrolithiasis Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Urinary Calculi Urogenital Diseases Urolithiasis Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Mansoura University

Al Mansurah, Outside U.S./Canada, 35561, Egypt

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

percutaneous nephrlolithotomy

Procedure

Endoscopic removal of renal stones

VDR gene, CASR gene

Genetic

checking possible mutations of VDR and CASR genes

Primary outcomes

  1. prevalence of Ca-based renal stones

    Time frame: two years

    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

  2. Genetic background of Ca based renal stones

    Time frame: two years

    Identification of metabolic derangement and genomic alterations in patients with renal Ca stones (CASR, and VDR genes)

Secondary outcomes

  1. Stone recurrence

    Time frame: two years

    Evaluation of the possible correlation of detected genomic mutations assessed by genetic analysis with stone recurrence at 2 years following stone management.

Sponsors and collaborators

Lead sponsor

Mansoura University

Other

Registry information

Important dates

Study start
2021
Primary completion
2023
Study completion
2024
First posted
Aug 2, 2023
Registry last updated
Jun 10, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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