The genetic framework for development of nephrolithiasis

Vasudevan, Vinaya; Samson, Patrick; Smith, Arthur D.; Okeke, Zeph

doi:10.1016/j.ajur.2016.11.003

Cited by 24 publications

(19 citation statements)

References 73 publications

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“…Cystine stones are caused by mutations in the SLC3A1 , SLC7A9 gene or other neighboring genes [64] . In addition, mutation of SLC22A12 and SLC2A9 has also been reported in patients with uric acid calculi [65] . Calcium oxalate stones, the most common type of urinary calculi, are found to be the result of deficiency of enzymes, like alanine glyoxylate aminotransferase (AGT), glyoxylate reductate/hydroxypyruvate reductase (GRHPR) or 4-hydroxy-2-oxoglutarrate aldolase (HOGA1) [65] .…”

Section: Risk Factorsmentioning

confidence: 97%

“…In addition, mutation of SLC22A12 and SLC2A9 has also been reported in patients with uric acid calculi [65] . Calcium oxalate stones, the most common type of urinary calculi, are found to be the result of deficiency of enzymes, like alanine glyoxylate aminotransferase (AGT), glyoxylate reductate/hydroxypyruvate reductase (GRHPR) or 4-hydroxy-2-oxoglutarrate aldolase (HOGA1) [65] . Subsequently, synthesis and excretion of oxalate are increased, resulting in calcium oxalate stone formation.…”

Section: Risk Factorsmentioning

confidence: 97%

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Epidemiology of urolithiasis in Asia

Liu

Chen

Liao

et al. 2018

Asian Journal of Urology

293

205

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In Asia, about 1%–19.1% of the population suffer from urolithiasis. However, due to variations in socio-economic status and geographic locations, the prevalence and incidence have changed in different countries or regions over the years. The research for risk factors of urinary tract stones is of predominant importance. In this review, we find the prevalence of urolithiasis is 5%–19.1% in West Asia, Southeast Asia, South Asia, as well as some developed countries (South Korea and Japan), whereas, it is only 1%–8% in most part of East Asia and North Asia. The recurrence rate ranges from 21% to 53% after 3–5 years. Calcium oxalate (75%–90%) is the most frequent component of calculi, followed by uric acid (5%−20%), calcium phosphate (6%−13%), struvite (2%−15%), apatite (1%) and cystine (0.5%−1%). The incidence of urolithiasis reaches its peak in population aged over 30 years. Males are more likely to suffer from urinary calculi. Because of different dietary habits or genetic background, differences of prevalence among races or nationalities also exist. Genetic mutation of specific locus may contribute to the formation of different kinds of calculi. Dietary habits (westernized dietary habits and less fluid intake), as well as climatic factors (hot temperature and many hours of exposure to sunshine) play a crucial role in the development of stones. Other diseases, especially metabolic syndrome, may also contribute to urinary tract stones.

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Section: Risk Factorsmentioning

confidence: 97%

Section: Risk Factorsmentioning

confidence: 97%

Epidemiology of urolithiasis in Asia

Liu

Chen

Liao

et al. 2018

Asian Journal of Urology

293

205

View full text Add to dashboard Cite

show abstract

“…Nevertheless, we identified PTX3 as a previously unknown endogenous protein inhibitor of intrarenal CaOx crystal growth and adhesion ( 49 ). The field agrees that nephrocalcinosis, kidney stone disease and urolithiasis do not have a monogenic cause ( 54 ). Rather an increasing list of candidate genes is assembled by whole genome genotyping approaches using nephrolithiasis patient cohorts ( 55 , 56 ).…”

Section: Discussionmentioning

confidence: 78%

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease

et al. 2018

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The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles. We hypothesized that PTX3 would exhibit opsonin-like functions toward calcium oxalate crystals, too, and inhibit crystal growth. This process is fundamental in kidney stone disease as well as in hyperoxaluria-related nephrocalcinosis, the paradigmatic cause of chronic kidney disease (CKD) in children with primary hyperoxaluria type I due to genetic defects in oxalate metabolism. Direct effects of PTX3 on calcium oxalate crystals were investigated in chemico by adding recombinant PTX3 to supersaturated calcium and oxalate solutions. PTX3, but not isomolar concentrations of albumin, dose-dependently inhibited crystal growth. In vivo, the PTX3 protein was undetectable in tubular epithelial cells and urine of wild-type mice under physiological conditions. However, its levels increased within 3 weeks of feeding an oxalate-rich diet, an exposure inducing hyperoxaluria-related nephrocalcinosis and CKD in selected mouse strains (male and female C57BL/6N and male Balb/c mice) but not in others (male and female 129SV and CD-1, male and female Balb/c mice). Genetic ablation of ptx3 in nephrocalcinosis un-susceptible B6;129 mice was sufficient to raise the oxalate nephropathy phenotype observed in susceptible strains. We conclude that PTX3 is an endogenous inhibitor of calcium oxalate crystal growth. This mechanism limits hyperoxaluria-related nephrocalcinosis, e.g., in primary or secondary hyperoxaluria, and potentially also in the more prevalent kidney stone disease.

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“…In literature, there is a division into individual and environmental factors [11][12][13][14]. Individual factors include non-modifiable factors such as genetic determinants (mutations in the SLC3A1, SLC7A9, SLC22A12 and SLC2A9 genes or other adjacent ones) [15][16][17], ethnic origin, age, gender and lifestyle factors, i.e., eating habits, body mass index (BMI), dehydration, overweight, obesity, diabetes, hypertension, etc. It should also be noted that the presence of urinary stones may be associated with the occurrence of other diseases [18].…”

Section: Introductionmentioning

confidence: 99%

The role of selected environmental factors and the type of work performed on the development of urolithiasis – a review paper

Wróbel¹,

Kuder²

2019

Int J Occup Med Environ Health

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Urolithiasis is a disease of the genitourinary system, which is defined as the presence of urinary stones at any place in the urinary tract, resulting from the precipitation reaction of chemical compounds. The aim of this study is to demonstrate the important role of selected environmental factors (climate, ambient temperature) and the type of profession performed in the development of urolithiasis. In this field, the literature including original and review papers related to the epidemiology, pathogenesis and risk factors of urolithiasis was analyzed. The study used electronic databases such as Medline, Web of Science and Google Scholar. The prevalence of urolithiasis has increased in recent decades in both developed and developing countries. It is believed that this growing trend is associated with lifestyle changes such as the lack of physical activity, poor eating habits and global warming. Many factors are responsible for the formation of urinary stones. In literature, there is a division into individual and environmental factors. Today, external factors in the form of climate changes (global warming), geographical conditions and seasonal fluctuations, and the type of profession performed are becoming more and more important in the context of the occurrence of urinary stones. Currently, the presence of urolithiasis is becoming a significant problem all over the world and searching for causes is not easy, but particular attention should be paid to certain predispositions resulting from environmental factors, such as ambient temperature and the type of work performed.

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The genetic framework for development of nephrolithiasis

Cited by 24 publications

References 73 publications

Epidemiology of urolithiasis in Asia

Epidemiology of urolithiasis in Asia

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease

The role of selected environmental factors and the type of work performed on the development of urolithiasis – a review paper

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