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Updated: Jun 27, 2025
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Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
Published on: February 9, 2021
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Monogenic features of urolithiasis: A comprehensive review
Kyo Chul Koo1, Abdulghafour Halawani2, Victor K F Wong3
1Department of Urology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Asian Journal of Urology
|April 29, 2024
Summary
Genetic factors significantly contribute to urolithiasis (kidney stone) formation. Research highlights numerous monogenic causes, emphasizing the heritable component of this complex condition.
Area of Science:
- Nephrology
- Genetics
- Urology
Background:
- Urolithiasis is traditionally linked to environmental and dietary factors.
- Growing evidence indicates a substantial genetic contribution to stone formation.
- High-throughput sequencing reveals a strong heritable component in urolithiasis.
Purpose of the Study:
- To review monogenic factors contributing to genetic predisposition in urolithiasis.
- To summarize disorders associated with monogenic traits.
- To discuss clinical implications of identifying genetically susceptible individuals.
Main Methods:
- Systematic review of peer-reviewed journals.
- PubMed search conducted up to July 2023.
- Focus on monogenic causes and their clinical relevance.
Main Results:
- Over 80% of urolithiasis cases involve calcium accumulation.
- Research has identified key receptors, channels, and transporters in hypercalciuric urolithiasis.
- Current methods have limitations in distinguishing genetic from environmental influences; genotypes remain unknown in most cases.
Conclusions:
- Urolithiasis pathophysiology is complex and multifactorial.
- Strong evidence supports numerous monogenic causes of urolithiasis in humans.
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