Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies.

Pathogenic variants in the SLC34A1 and SLC34A3 genes, encoding sodium-phosphate cotransporters 2a (NPT2a) and 2c (NPT2c), are linked to rare phosphate-wasting disorders. In this issue, Brunkhorst et al. explore the clinical presentations, biochemical profiles, and treatment outcomes associated with these genetic variants in 113 individuals.

Therapeutic targets of antidiabetic drugs and kidney stones: A druggable mendelian randomization study and experimental study in rats.

Diabetes is known to increase the risk of kidney stones, but the influence of antidiabetic drugs on this risk remains uncertain. Genetic instruments for antidiabetic drugs were identified as variants, which were associated with both the expression of genes encoding target proteins of drugs and glycated hemoglobin level (HbA1c). Here, we investigated the effect of antidiabetic drugs on kidney stones in a mendelian randomization (MR) framework, and further explore the potential effect on CaOx stone rat models induced by glyoxylic acid.

Association between weight-adjusted waist index and overactive bladder: a cross-sectional study based on 2009-2018 NHANES.

Background: The weight-adjusted waist index (WWI) is a novel obesity indicator that appears to outperform the body mass index (BMI) and waist circumference (WC) in assessing both overweight and obesity. Studies have demonstrated the relationship between obesity and overactive bladder (OAB). The purpose of this study is to examine the correlation between WWI and OAB.

Osteogenic-Like Microenvironment of Renal Interstitium Induced by Osteomodulin Contributes to Randall's Plaque Formation.

Calcium oxalate (CaOx) kidney stones are common and recurrent, lacking pharmacological prevention. Randall's plaques (RPs), calcium deposits in renal papillae, serve as niduses for some CaOx stones. This study explores the role of osteogenic-like cells in RP formation resembling ossification.

A high-calcium environment induced ectopic calcification of renal interstitial fibroblasts via TFPI-2-DCHS1-ALP/ENPP1 axis to participate in Randall's plaque formation.

Randall's plaques (RP) serve as anchoring sites for calcium oxalate (CaOx) stones, but the underlying mechanism remains unclear. Renal interstitium with a high-calcium environment is identified as pathogenesis of RP formation where the role of human renal interstitial fibroblasts (hRIFs) was highlighted. Our study aims to elucidate the potential mechanism by which a high-calcium environment drives ectopic calcification of hRIFs to participate in RP formation.

The impact of anxiety on the risk of kidney stone disease: Insights into eGFR-mediated effects.

Background: Previous studies have linked kidney stone disease (KSD) with depression, but there are no reports on the relationship between anxiety and KSD, and the mechanism underlying the potential relationship remains unclear.

Methods: Associations of anxiety and incident KSD were assessed in the National Health and Nutrition Examination Survey (NHENES) using multivariate logistic regression. Two-sample bidirectional Mendelian randomization studies and a two-step two-sample MR was used to estimate the mediating factors that influence KSD risk.

Both enantiomers of β-aminoisobutyric acid BAIBA regulate Fgf23 via MRGPRD receptor by activating distinct signaling pathways in osteocytes.

With exercise, muscle and bone produce factors with beneficial effects on brain, fat, and other organs. Exercise in mice increased fibroblast growth factor 23 (FGF23), urine phosphate, and the muscle metabolite L-β-aminoisobutyric acid (L-BAIBA), suggesting that L-BAIBA may play a role in phosphate metabolism. Here, we show that L-BAIBA increases in serum with exercise and elevates Fgf23 in osteocytes.

Metabolic Syndrome and the Risk of Kidney Stones: a Large-scale Cohort Study from 487,860 UK Biobank participants.

Objective: While some studies have suggested an association between metabolic syndrome and kidney stones, the quality and level of evidence in these studies vary. Whether some individual characteristics and clustering of metabolic syndrome traits increase the risk of kidney stones has not been examined in a large-scale prospective cohort.

Materials: We conducted a retrospective analysis of data from a prospective cohort of 487,860 UK Biobank participants who were free from kidney stones at baseline.

Proton pump inhibitors use is associated with a higher prevalence of kidney stones: NHANES 2007-2018.

Background: Proton pump inhibitors (PPIs) are widely used throughout the world as an effective gastrointestinal drug. Nevertheless, according to the existing literature, PPIs can reduce the excretion of magnesium, calcium and other components in urine, which may promote the formation of kidney stones. We used the National Health and Nutrition Examination Survey (NHANES) database to further investigate the association between the use of PPIs and the prevalence of kidney stones.

Exposure to per- and polyfluoroalkyl substance and metabolic syndrome: A nationally representative cross-sectional study from NHANES, 2003-2018.

Per- and polyfluoroalkyl substances(PFAS) are widespread organic pollutants with endocrine-disrupting effects on human health, but the association of PFAS exposure with metabolic syndrome remains conflicting. National Health and Nutrition Examination Survey(NHANES) program was utilized to evaluate the association of individual PFAS exposure and metabolic disorders and further determined the joint effect of PFAS co-exposures. 13921 participants and five PFAS exposures(PFHxS, MPAH, PFDE, PFNA, and PFUA) were included for analysis.

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).

Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis of clinical and laboratory records of 304 individuals from 145 kindreds, including 20 previously unreported HHRH kindreds, in which two novel SLC34A3 pathogenic variants were identified. Compound heterozygous/homozygous carriers show above 90% penetrance for kidney and bone phenotypes.

Association between tea consumption and risk of kidney stones: results from dose-response meta-analysis of prospective studies and Mendelian randomization analysis.

Purpose: The association between tea consumption and kidney stones is inconsistent in observational studies. Thus, we performed a dose-response meta-analysis of prospective cohort studies and a two-sample Mendelian randomization (MR) analysis to identify this association.

Methods: The prospective cohort studies reporting the relationship between tea consumption and kidney stones were searched from PubMed, the Cochrane Library, EMBASE, and Web of Science from inception to December 1, 2023.

Renal pedicle lymphatic ligation for non-parasitic chyluria via retroperitoneal laparoscopic surgery: a single-center 12-year experience.

Background: Chyluria is a rare disease in which chylous is excreted in the urine. Currently, management of chyluria includes conservative treatments and surgical measures. This study aimed to report our experience in treating non-parasitic chyluria with retroperitoneal laparoscopic ligation of the renal lymphatic vessels.

Knockdown of lncRNA MALAT1 attenuates renal interstitial fibrosis through miR-124-3p/ITGB1 axis.

Renal interstitial fibrosis (RIF) considered the primary irreversible cause of chronic kidney disease. Recently, accumulating studies demonstrated that lncRNAs play an important role in the pathogenesis of RIF. However, the underlying exact mechanism of lncRNA MALAT1 in RIF remains barely known.

Serum HDL partially mediates the association between exposure to volatile organic compounds and kidney stones: A nationally representative cross-sectional study from NHANES.

Environmental exposure to volatile organic compounds (VOCs) is ubiquitous, and this study explored whether exposure to VOCs is associated with the risk of kidney stones. We performed a nationally representative US cross-sectional study using data from five survey cycles (2011-2020) of the National Health and Nutrition Examination Survey (NHANES) program. Exposure to VOCs was determined by urine creatinine-corrected metabolites of VOCs (mVOCs).

Risk factors for the comorbidity of osteoporosis/osteopenia and kidney stones: a cross-sectional study.

Unlabelled: Low femoral neck bone mineral density (BMD) was associated with the increased risk of kidney stones. Low dietary magnesium intake and increased serum alkaline phosphatase were associated with the increased risk of low femoral neck BMD in kidney stone formers.

Purpose: To evaluate whether low femoral neck bone mineral density (BMD) was associated with a higher risk of kidney stones, and identify risk factors for the comorbidity of osteoporosis/osteopenia and kidney stones.

Association of serum 25-hydroxyvitamin D concentrations with all-cause mortality among individuals with kidney stone disease: the NHANES database prospective cohort study.

Background: The purpose of this study was to investigate the correlation between serum 25(OH)D concentrations and all-cause mortality in patients with kidney stone disease (KSD) as the effects of a deficiency in 25-hydroxyvitamin D on KSD patients are currently unclear.

Methods: For our prospective cohort study, we included 2,916 participants from the National Health and Nutrition Examination Survey (NHANES) 2007-2018. The National Death Index (NDI) was utilized to identify all causes of death and cause-specific mortality until December 31, 2018.

Lifestyle factors, serum parameters, metabolic comorbidities, and the risk of kidney stones: a Mendelian randomization study.

Background And Objective: The early identification of modifiable risk factors is important for preventing kidney stones but determining causal associations can be difficult with epidemiological data. We aimed to genetically assess the causality between modifiable factors (lifestyle factors, serum parameters, and metabolic comorbidities) and the risk of kidney stones. Additionally, we aimed to explore the causal impact of education on kidney stones and its potential mediating pathways.

The association of dyslipidemia with kidney stone: result from the NHANES 2007-2020.

Objective: To examine the association between dyslipidemia and kidney stone disease (KSD).

Methods: A cross-sectional study data from 2007 to 2020 National Health and Nutrition Examination Survey (NHANES) were analyzed. Multivariate logistic regression was conducted with serum lipid levels as the exposure and presence of KSD as the outcome, and included adjustment for confounders and subgroup analysis.

Causal relationship between kidney stones and gut microbiota contributes to the gut-kidney axis: a two-sample Mendelian randomization study.

Background: Gut microbiota, particularly , has been previously reported to be associated with kidney stones. However, the conflicting results from both observational and intervention studies have created substantial uncertainty regarding the contribution of to the formation of kidney stone.

Methods: We employed a two-sample MR analysis to investigate the causal relationship between gut microbiota and kidney stones using GWASs summary statistics obtained from the MiBioGen and FinnGen consortia.

Comprehensive evaluation of serum cotinine on human health: Novel evidence for the systemic toxicity of tobacco smoke in the US general population.

Background: Accumulating epidemiological studies have demonstrated that smoking caused damage to human health. However, these studies almost focused on the individual smoking pattern rather than the toxic ingredients of tobacco smoke. Despite the exact accuracy of cotinine as a smoking exposure biomarker, there were few studies investigating the association between serum cotinine and human health.

OLMALINC/OCT4/BMP2 axis enhances osteogenic-like phenotype of renal interstitial fibroblasts to participate in Randall's plaque formation.

Background: Randall's plaques (RP) are identified as anchored sites for kidney calcium oxalate stones, but the mechanism remains unclear. Given the importance of osteogenic-like cells in RP formation and OCT4 in reprogramming differentiated cells to osteoblasts, the current study explored the potential role of OCT4 in RP formation.

Methods: OCT4 and biomineralization were evaluated in RP, and immunofluorescence co-staining was performed to identify these cells with alteration of OCT4 and osteogenic markers.