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Genetic determinants of urolithiasis
Carla G Monico1, Dawn S Milliner
1Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic Hyperoxaluria Center, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Nature Reviews. Nephrology
|December 21, 2011
Summary
Urolithiasis, commonly calcium oxalate stones, involves genetic and environmental factors. Advances in understanding genetic factors, including rare monogenic forms, are crucial for diagnosis and treatment.
Area of Science:
- Nephrology
- Genetics
- Urology
Background:
- Urolithiasis affects 10% of individuals by age 70.
- Idiopathic calcium oxalate urolithiasis is a complex trait influenced by genes, diet, and environment.
- Hypercalciuria is a predominant metabolic risk factor.
Purpose of the Study:
- To review advances in understanding the genetic basis of urolithiasis.
- To highlight the challenges and insights gained from studying both polygenic and monogenic forms.
- To emphasize the importance of early diagnosis for monogenic urolithiasis.
Main Methods:
- Review of existing literature on genetic and epigenetic factors in urolithiasis.
- Discussion of insights from candidate gene and linkage studies.
- Examination of rare Mendelian forms of urolithiasis and associated metabolic risk factors.
Main Results:
- Progress has been made in identifying metabolic risk factors, particularly hypercalciuria.
- Genetic and epigenetic factors remain less clear due to limitations of previous methods.
- Monogenic diseases represent a larger proportion of stone cases in younger individuals.
Conclusions:
- Understanding genetic factors is key to unraveling urolithiasis pathogenesis.
- Early diagnosis of monogenic urolithiasis is vital due to potential renal injury and treatable manifestations.
- Further research is needed to overcome diagnostic delays for rare genetic stone disorders.
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