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1.
BMC Immunol ; 25(1): 34, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38877395

RESUMO

PURPOSE: Previous studies have reported the potential impact of immune cells on kidney stone disease (KSD), but definitive causal relationships have yet to be established. The purpose of this paper is to elucidate the potential causal association between immune cells and KSD by Mendelian randomization (MR) analysis. METHODS: In our study, a thorough two-sample Mendelian randomization (MR) analysis was performed by us to determine the potential causal relationship between immune cell traits and kidney stone disease. We included a total of four immune traits (median fluorescence intensity (MFI), relative cellular (RC), absolute cellular (AC), and morphological parameters (MP)), which are publicly available data. GWAS summary data related to KSD (9713 cases and 366,693 controls) were obtained from the FinnGen consortium. The primary MR analysis method was Inverse variance weighted. Cochran's Q test, MR Egger, and MR-Pleiotropy RESidual Sum and Outlier (MR-PRESSO) were used to assess the stability of the results. RESULTS: After FDR correction, the CD8 on HLA DR + CD8br (OR = 0.95, 95% CI = 0.93-0.98, p-value = 7.20 × 10- 4, q-value = 0.088) was determined to be distinctly associated with KSD, and we also found other 25 suggestive associations between immune cells and KSD, of which 13 associations were suggested as protective factors and 12 associations were suggested as risk factors. There was no horizontal pleiotropy or significant heterogeneity in our MR analysis, as determined by the p-value results of our Cochrane Q-test, MR Egger's intercept test, and MR-PRESSO, which were all > 0.05. CONCLUSIONS: Our study has explored the potential causal connection between immune cells and KSD by Mendelian randomization analysis, thus providing some insights for future clinical studies.


Assuntos
Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Cálculos Renais , Análise da Randomização Mendeliana , Humanos , Cálculos Renais/genética , Cálculos Renais/imunologia , Polimorfismo de Nucleotídeo Único , Antígenos HLA-DR/genética
2.
Am J Kidney Dis ; 84(4): 437-446.e1, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38754804

RESUMO

RATIONALE & OBJECTIVE: Kidney stone disease (KSD), a significant health care problem within both developed and developing countries, has been associated with genetic risk factors. An association between physical activity and KSD risk also has been hypothesized, but studies have yielded inconsistent findings. This study investigated the association between the intensity of physical activity and the incidence of KSD accounting for genetic risk. STUDY DESIGN: Prospective cohort study. SETTING & PARTICIPANTS: A total of 80,473 participants from the UK Biobank Study. EXPOSURE: Physical activity levels, including total physical activity (TPA), moderate-to-vigorous intensity physical activity (MVPA), and light-intensity physical activity (LPA), were measured using accelerometers and quantified using a machine learning model. A polygenic risk score (PRS) for KSD was also constructed. OUTCOME: Individuals with KSD were identified using the International Classification of Diseases, Tenth Revision (ICD-10), and procedure codes for KSD surgery. ANALYTICAL APPROACH: A Fine and Gray survival model was used to estimate the associations of incident KSD with TPA, MVPA, LPA, and PRS (as categorical variables). Restricted cubic splines were used to examine potential nonlinear associations within the fully adjusted models. RESULTS: During an average follow-up of 6.19 years, 421 participants developed KSD. Participants in the highest quartiles of TPA, MVPA, and LPA had lower adjusted rates of KSD compared with those in the lowest quartiles: HR, 0.50 (95% CI, 0.44-0.56), 0.57 (95% CI, 0.51-0.64), and 0.66 (95% CI, 0.59-0.74), respectively. TPA, MVPA, and LPA were associated with a lower risk of KSD in participants with low and high genetic predisposition for KSD. LIMITATIONS: Selection bias as participants who provided accelerometry data may have been more adherent to health care. CONCLUSIONS: Physical activity was negatively associated with the risk of KSD, regardless of the genetic risk. Future large studies are warranted to confirm and explain the mechanisms underlying these associations. PLAIN-LANGUAGE SUMMARY: The association between the intensity of physical activity (PA) and the incidence of kidney stone disease (KSD) after accounting for genetic risk is unclear. We conducted a comprehensive prospective cohort study utilizing participants from the UK Biobank to assess the intensity of PA using accelerometers. Our study findings indicated that greater total PA, moderate-to-vigorous-intensity PA, and light-intensity PA were each associated with a lower risk of KSD irrespective of an individual's genetic risk. Our study informs the understanding of risk factors for KSD.


Assuntos
Acelerometria , Bancos de Espécimes Biológicos , Exercício Físico , Predisposição Genética para Doença , Cálculos Renais , Humanos , Cálculos Renais/epidemiologia , Cálculos Renais/genética , Masculino , Feminino , Reino Unido/epidemiologia , Pessoa de Meia-Idade , Estudos Prospectivos , Idoso , Fatores de Risco , Incidência , Adulto , Estudos de Coortes , Medição de Risco/métodos , Biobanco do Reino Unido
3.
Hum Genomics ; 17(1): 89, 2023 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-37789450

RESUMO

OBJECTIVE: Previous studies have proposed that food intakes are associated with the risk of urolithiasis. Here, we conducted a two-sample Mendelian randomization (MR) study to evaluate the causal effects of different food intakes on urolithiasis. METHODS: Independent genetic variants associated with different food intakes at a genome-wide significant level were selected from summary-level statistics of genome-wide association studies from the UK Biobank. The association of these instrumental variables with urolithiasis was studied in a cohort from FinnGen Consortium. RESULTS: Among the 15 studied food intake exposures, tea intake (odds ratio [OR] = 0.433, 95% confidence interval [CI] = 0.281-0.667, p value = 1.470 × 10-4) and fresh fruit intake (OR = 0.358, 95% CI = 0.185-0.694, p value = 0.002) were found to significantly reduce the risk of the calculus of kidney and ureter. The association remained consistent in the sensitivity analyses. After adjusting for the effects of vitamin D and vitamin C, fresh fruit intake remained the reverse causal association with the calculus of kidney and ureter. CONCLUSIONS: Genetically proxied fresh fruit intake is causally associated with a reduced risk of the calculus of kidney and ureter.


Assuntos
Cálculos , Urolitíase , Humanos , Fatores de Proteção , Análise da Randomização Mendeliana , Frutas/genética , Estudo de Associação Genômica Ampla , Urolitíase/epidemiologia , Urolitíase/genética , Urolitíase/prevenção & controle , Polimorfismo de Nucleotídeo Único/genética
4.
World J Urol ; 42(1): 222, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38587667

RESUMO

PURPOSE: Oxidative balance stress (OBS) was an important indicator for assessing exposure to oxidative stress related to diet and lifestyle. The purpose of this study was to explore the relationship between OBS and kidney stone disease (KSD). METHODS: Secondary dataset analysis was performed by the study from six survey cycles (2007-2018) in the National Health and Nutrition Examination Survey (NHANES). OBS was the exposure factor and ever had kidney stone (yes or no) was the outcome. Weighted univariate or multivariate logistic regression models were used to estimate the associations. RESULTS: The prevalence of KSD among participants was 8.6%. OBS showed a significant negative correlation with KSD (OR: 0.98, 95% CI 0.96-0.999), 35% reduction in KSD in the highest OBS quartile compared to the lowest OBS quartile. Dietary OBS was significantly negatively correlated with KSD (OR: 0.98, 95% CI 0.96-0.9998), but not with lifestyle OBS. In addition, OBS had a negative correlation with KSD in females (OR: 0.97, 95% CI 0.94-0.996), non-diabetic participants (OR: 0.98, 95% CI 0.96-0.99), and hypertensive participants (OR: 0.96, 95% CI 0.93-0.99), but OBS was not observed to be associated with KSD in gout participants. Interestingly, this relationship existed in participants aged 30-60 years and a ratio of family income to poverty (PIR) of 1.3-3.5 (all P value < 0.05). CONCLUSION: Our study revealed that OBS was negative associated with KSD, and high OBS might be a protective factor in KSD. Targeting one of the components of OBS might be beneficial.


Assuntos
Cálculos Renais , Adulto , Feminino , Humanos , Estudos Transversais , Inquéritos Nutricionais , Cálculos Renais/epidemiologia , Renda , Estresse Oxidativo
5.
World J Urol ; 42(1): 294, 2024 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-38704777

RESUMO

PURPOSE: To date, no study has evaluated effects of varying brightness settings on image quality from flexible ureteroscopes submerged in saline. The aim was to evaluate blackout and whiteout occurrences in an in-vitro kidney calyx model. MATERIAL AND METHODS: We evaluated a series of contemporary flexible ureteroscopes including the Storz Flex-Xc and Flex-X2s, Olympus V3 and P7, Pusen 7.5F and 9.2F, as well as OTU WiScope using a 3D-printed enclosed pink in-vitro kidney calyx model submerged in saline. Endoscopic images were captured with ureteroscope tip placed at 5 mm,10 mm and 20 mm distances. The complete range of brightness settings and video capture modes were evaluated for each scope. Distribution of brightness on a grayscale histogram of images was analyzed (scale range 0 to 255). Blackout and whiteout were defined as median histogram ranges from 0 to 35 and 220 to 255, respectively (monitor image too dark or too bright for the human eye, respectively). RESULTS: Blackout occurred with the P7, Pusen 7.5F, 9.2F and WiScope at all distances, and V3 at 20 mm - with lowest brightness settings. Whiteout occurred with Flex-X2s, V3 and P7 at 5 mm and 10 mm, as well as with V3 and P7 at 20 mm - mostly with highest brightness settings. The Flex-Xc had neither blackout nor whiteout at all settings and distances. CONCLUSION: Blackout or whiteout of images is an undesirable property that was found for several scopes, possibly impacting diagnostic and therapeutic purposes during ureteroscopy. These observations form a guide to impact a urologist's choice of instruments and settings.


Assuntos
Ureteroscópios , Ureteroscopia , Humanos , Desenho de Equipamento , Iluminação , Maleabilidade , Cálices Renais
6.
World J Urol ; 42(1): 412, 2024 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-39002090

RESUMO

PURPOSE: Iatrogenic ureteral strictures (US) after endoscopic treatment for urolithiasis represent a significant healthcare concern. However, high-quality evidence on the risk factors associated with US is currently lacking. We aimed to develop a consensus statement addressing the definition, risk factors, and follow-up management of iatrogenic US after endoscopic treatment for urolithiasis. METHODS: Utilizing a modified Delphi method, a steering committee developed survey statements based on a systematic literature review. Then, a two-round online survey was submitted to 25 experts, offering voting options to assess agreement levels. A consensus panel meeting was held for unresolved statements. The predetermined consensus threshold was set at 70%. RESULTS: The steering committee formulated 73 statements. In the initial survey, consensus was reached on 56 (77%) statements. Following in-depth discussions and refinement of 17 (23%) statements in a consensus meeting, the second survey achieved consensus on 63 (86%) statements. This process underscored agreement on pivotal factors influencing US in endoscopic urolithiasis treatments. CONCLUSIONS: This study provides a comprehensive list of categorized risk factors for US following endoscopic urolithiasis treatments. The objectives include enhancing uniformity in research, minimizing redundancy in outcome assessments, and effectively addressing risk factors associated with US. These findings are crucial for designing future clinical trials and guiding endoscopic surgeons in mitigating the risk of US.


Assuntos
Técnica Delphi , Obstrução Ureteral , Ureteroscopia , Urolitíase , Humanos , Urolitíase/cirurgia , Fatores de Risco , Ureteroscopia/efeitos adversos , Obstrução Ureteral/cirurgia , Obstrução Ureteral/etiologia , Constrição Patológica , Complicações Pós-Operatórias/etiologia , Doença Iatrogênica , Internacionalidade , Consenso
7.
World J Urol ; 42(1): 234, 2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38613692

RESUMO

PURPOSE: We aimed to accurately determine ureteral stricture (US) rates following urolithiasis treatments and their related risk factors. METHODS: We conducted a systematic review and meta-analysis following the PRISMA guidelines using databases from inception to November 2023. Studies were deemed eligible for analysis if they included ≥ 18 years old patients with urinary lithiasis (Patients) who were subjected to endoscopic treatment (Intervention) with ureteroscopy (URS), percutaneous nephrolithotomy (PCNL), or shock wave lithotripsy (SWL) (Comparator) to assess the incidence of US (Outcome) in prospective and retrospective studies (Study design). RESULTS: A total of 43 studies were included. The pooled US rate was 1.3% post-SWL and 2.1% post-PCNL. The pooled rate of US post-URS was 1.9% but raised to 2.7% considering the last five years' studies and 4.9% if the stone was impacted. Moreover, the pooled US rate differed if follow-ups were under or over six months. Patients with proximal ureteral stone, preoperative hydronephrosis, intraoperative ureteral perforation, and impacted stones showed higher US risk post-endoscopic intervention with odds ratio of 1.6 (P = 0.05), 2.6 (P = 0.009), 7.1 (P < 0.001), and 7.47 (P = 0.003), respectively. CONCLUSIONS: The overall US rate ranges from 0.3 to 4.9%, with an increasing trend in the last few years. It is influenced by type of treatment, stone location and impaction, preoperative hydronephrosis and intraoperative perforation. Future standardized reporting and prospective and more extended follow-up studies might contribute to a better understanding of US risks related to calculi treatment.


Assuntos
Litotripsia , Complicações Pós-Operatórias , Ureteroscopia , Urolitíase , Humanos , Ureteroscopia/efeitos adversos , Fatores de Risco , Urolitíase/cirurgia , Urolitíase/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Litotripsia/efeitos adversos , Litotripsia/métodos , Constrição Patológica , Nefrolitotomia Percutânea/efeitos adversos , Nefrolitotomia Percutânea/métodos , Obstrução Ureteral/etiologia , Obstrução Ureteral/cirurgia
8.
World J Urol ; 42(1): 219, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38587631

RESUMO

BACKGROUND: The aim of the study was to explore the association of serum soluble klotho with kidney stone disease (KSD) in the general population over the age of 40 years in the United States. METHODS: We integrated the data in National Health and Nutrition Examination Survey from 2007 to 2016 years. The relationship between serum soluble α­klotho and prevalence of KSD was analyzed by constructing weighted multivariable logistic regression model, restricted cubic spline (RCS) curve, and subgroup analyses. RESULTS: In the study, a total of 13,722 individuals were included in our study. A U-shaped association between serum soluble klotho and the risk of KSD was shown by the RCS curve (P value for nonlinear < 0.05). In the full adjusted model, compared with the lowest quartile of serum soluble α­klotho, the adjusted odd ratios (95% confidence intervals) for KSD across the quartiles were (0.999 (0.859, 1.164), 1.005 (0.858, 1.176), and 1.061 (0.911, 1.235)). Subgroup analyses also showed that the U-shaped association of serum soluble α­klotho with KSD was found among subjects who were age < 60 years, female or male, with or without hypertension, and BMI ≥ 30 kg/m2. CONCLUSIONS: Our findings suggested that serum klotho levels had a U-shaped correlation with risk of KSD. When the Klotho level is at 818.66 pg/mL, prevalence of KSD is lowest. Therefore, maintaining a certain level of serum soluble α­klotho could prevent the occurrence of KSD.


Assuntos
Hipertensão , Cálculos Renais , Humanos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Estudos Transversais , Inquéritos Nutricionais , Cálculos Renais/epidemiologia , Modelos Logísticos
9.
World J Urol ; 42(1): 28, 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38214752

RESUMO

PURPOSE: Oxalate is an excellent calcium ion attractor with great abundance in the human body, and the liver is the major source of oxalate. The Glycolate oxidase-1 (GOX1) gene is solely responsible for the glycolate and glyoxylate metabolism and produces oxalate. This study has been designed to comprehend the association of genetic variants of the GOX1 gene with the risk of hyperoxaluria and renal stone disease in the Indian population. METHOD: The present study is a candidate gene approach prospective case-control study carried out on 300 participants (150 cases and 150 controls) at Muljibhai Patel Urological Hospital, Gujarat, India. Biochemical parameters, including serum levels of calcium, creatinine, parathyroid hormone, and 24-h urine metabolites, were performed. The genotyping of GOX1 gene variants rs6086287, rs2235250, rs2255183, and rs2294303 was performed using a customized TaqMan assay probe by RT-PCR. RESULT: Parathyroid hormone, serum creatinine, and urine metabolites were significantly elevated in nephrolithiasis compared to healthy individuals. All mutated homozygous genotypes GG (rs6086287), TT (rs2235250), GG (rs2255183), and CC (rs2294303) were significantly associated with a high risk of renal stone disease. Individuals diagnosed with hyperoxaluria and carrying TG (rs6086287), AG (rs2255183), and TT (rs2294303) genotypes have a significantly high risk of renal stone disease. Moreover, haplotype analysis and correlation analysis also confirmed the strong association between genetic variants and nephrolithiasis. CONCLUSION: Genetic variants of the GOX1 genes were associated with renal stone disease. In the presence of risk genotype and hyperoxaluria, the susceptibility to develop renal stone disease risk gets modulated.


Assuntos
Oxirredutases do Álcool , Hiperoxalúria , Cálculos Renais , Humanos , Cálcio , Estudos de Casos e Controles , Cálculos Renais/complicações , Hiperoxalúria/genética , Oxalatos/urina , Hormônio Paratireóideo , Creatinina
10.
World J Urol ; 42(1): 17, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38197976

RESUMO

PURPOSE: Kidney stone disease (KSD) is a common urological disease, but its pathogenesis remains unclear. In this study, we screened KSD-related hub genes using bioinformatic methods and predicted the related pathways and potential drug targets. METHODS: The GSE75542 and GSE18160 datasets in the Gene Expression Omnibus (GEO) were selected to identify common differentially expressed genes (DEGs). We conducted Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses to identify enriched pathways. Finally, we constructed a hub gene-miRNA network and drug-DEG interaction network. RESULTS: In total, 44 upregulated DEGs and 1 downregulated DEG were selected from the GEO datasets. Signaling pathways, such as leukocyte migration, chemokine activity, NF-κB, TNF, and IL-17, were identified in GO and KEGG. We identified 10 hub genes using Cytohubba. In addition, 21 miRNAs were predicted to regulate 4 or more hub genes, and 10 drugs targeted 2 or more DEGs. LCN2 expression was significantly different between the GEO datasets. Quantitative real-time polymerase chain reaction (qRT-PCR) analyses showed that seven hub gene expressions in HK-2 cells with CaOx treatment were significantly higher than those in the control group. CONCLUSION: The 10 hub genes identified, especially LCN2, may be involved in kidney stone occurrence and development, and may provide new research targets for KSD diagnosis. Furthermore, KSD-related miRNAs may be targeted for the development of novel drugs for KSD treatment.


Assuntos
Cálculos Renais , MicroRNAs , Humanos , Cálculos Renais/tratamento farmacológico , Cálculos Renais/genética , MicroRNAs/genética , Biomarcadores , Movimento Celular , Biologia Computacional
11.
World J Urol ; 42(1): 339, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38767720

RESUMO

BACKGROUND: The aim of our research was to examine the association of novel anthropometric indices (a body shape index (ABSI), waist-to-height ratio (WtHR), conicity index (CI) and body roundness index (BRI)) and traditional anthropometric indices (body mass index (BMI), and waist (WC)) with prevalence of kidney stone disease (KSD) in the general population of United States (U.S.). METHODS: In this study, we conducted a cross-sectional analysis among the participants in the National Health and Nutrition Examination Survey between the years 2007 and 2020. Weighted multivariable logistic regression analysis, restricted cubic spline (RCS), receiver operating characteristic (ROC) curves, and subgroup analysis were performed to analyze the association of ABSI, BRI, WtHR, CI, BMI and WC with prevalence of KSD. RESULTS: In total, 11,891 individuals were included in our study. The RCS plot shown that the linear positive association was found between ABSI, BRI, WtHR, CI, BMI and WC and KSD risk. Additionally, the ROC curve demonstrated that the area under the curve of ABSI, BRI, WtHR, and CI was significantly higher than traditional anthropometric indices, including BMI and WC. CONCLUSIONS: Our study found that the discriminant ability of ABSI, BRI, WtHR, and CI for KSD was higher than BMI and WC. Consequently, ABSI, BRI, WtHR, and CI have the potential to become new indicators for the detection of KSD risk in clinical practice.


Assuntos
Antropometria , Cálculos Renais , Valor Preditivo dos Testes , Humanos , Estudos Transversais , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Cálculos Renais/epidemiologia , Antropometria/métodos , Prevalência , Índice de Massa Corporal , Estados Unidos/epidemiologia , Razão Cintura-Estatura
12.
Pediatr Nephrol ; 39(1): 141-148, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37458799

RESUMO

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare, severe genetic disease causing increased hepatic oxalate production resulting in urinary stone disease, nephrocalcinosis, and often progressive chronic kidney disease. Little is known about the natural history of urine and plasma oxalate values over time in children with PH1. METHODS: For this retrospective observational study, we analyzed data from genetically confirmed PH1 patients enrolled in the Rare Kidney Stone Consortium PH Registry between 2003 and 2018 who had at least 2 measurements before age 18 years of urine oxalate-to-creatinine ratio (Uox:cr), 24-h urine oxalate excretion normalized to body surface area (24-h Uox), or plasma oxalate concentration (Pox). We compared values among 3 groups: homozygous G170R, heterozygous G170R, and non-G170R AGXT variants both before and after initiating pyridoxine (B6). RESULTS: Of 403 patients with PH1 in the registry, 83 met the inclusion criteria. Uox:cr decreased rapidly over the first 5 years of life. Both before and after B6 initiation, patients with non-G170R had the highest Uox:cr, 24-h Uox, and Pox. Patients with heterozygous G170R had similar Uox:cr to homozygous G170R prior to B6. Patients with homozygous G170R had the lowest 24-h Uox and Uox:cr after B6. Urinary oxalate excretion and Pox tend to decrease over time during childhood. eGFR over time was not different among groups. CONCLUSIONS: Children with PH1 under 5 years old have relatively higher urinary oxalate excretion which may put them at greater risk for nephrocalcinosis and kidney failure than older PH1 patients. Those with homozygous G170R variants may have milder disease. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Hiperoxalúria Primária , Cálculos Renais , Nefrocalcinose , Humanos , Criança , Adolescente , Pré-Escolar , Oxalatos , Nefrocalcinose/complicações , Hiperoxalúria Primária/urina , Cálculos Renais/etiologia
13.
Pediatr Nephrol ; 2024 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-39476025

RESUMO

BACKGROUND: Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder caused by bi-allelic genetic variants in the 4 hydroxy-2 oxoglutarate aldolase (HOGA-1) gene. We report the natural history of PH3 in a 16-patient cohort, 15 from a unique genetically isolated population. METHODS: This retrospective single-center study followed PH3 patients between 2003 and 2023 with demographic, clinical, radiographic, genetic, and biochemical parameters. Genetic population screening was performed in four villages to determine carrier frequency and identify couples at risk in a genetically isolated population. RESULTS: Sixteen patients with biallelic (or homozygous) pathogenic variants (PV) in HOGA-1 (c.944_946 del, c.119C > A, c.208C > T) were included in the study, 15 Druze and one Jewish, aged 0-63 years at diagnosis (4 adults and 12 pediatric patients). All symptomatic patients had clinical or imaging signs of nephrolithiasis. One developed chronic kidney disease (CKD) stage 5; biopsy showed focal mesangial sclerosis and chronic tubulo-interstitial changes with few oxalate deposits. Two other patients had CKD stage 2 (eGFR 87 and 74 mL/min/1.73 m2) upon their last visit. The remaining cohort showed preserved kidney function until the latest follow-up. Of 1167 healthy individuals screened, 90 carriers were found, a rate of 1:13 in the genetically unique cohort screened. CONCLUSIONS: A high prevalence of PH3 patients was found among a unique cohort, but probably still underdiagnosed due to relatively mild disease course. The carrier rate is high. There is no specific therapy for PH3, but early diagnosis can prevent redundant diagnostic efforts and provide early treatment for kidney stone disease. Even in our homogeneous cohort, kidney stone disease severity and CKD degree were variable, supporting a suspected contribution of yet unknown genetic or environmental factors.

14.
BMC Urol ; 24(1): 48, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38408996

RESUMO

Compared to a Western diet, the Mediterranean diet moves away from red meat and processed foods. Universally regarded as a healthier dietary alternative, the Mediterranean diet has garnered scientific endorsement for its ability to confer an array of compelling benefits. These health benefits encompass not only a lowered incidence of Type 2 diabetes with a reduction in obesity, but also a robust protective effect on cardiovascular health. Extensive literature exists to corroborate these health benefits; however, the impact of a Mediterranean diet on urologic diseases, specifically sexual dysfunction, lower urinary tract symptoms, stone disease, and urologic cancers are not well studied. Understanding how dietary habits may impact these urologic conditions can contribute to improved prevention and treatment strategies.A total of 955 papers from PubMed and Embase were systematically reviewed and screened. After exclusion of disqualified and duplicated studies, 58 studies consisting of randomized controlled trials, cohort studies, cross sectional studies, reviews and other meta-analyses were included in this review. 11 primary studies were related to the impact of a Mediterranean diet on sexual dysfunction, 9 primary studies regarding urinary symptoms, 8 primary studies regarding stone disease, and 9 primary studies regarding urologic cancers. All primary studies included were considered of good quality based on a New-Castle Ottawa scale. The results demonstrate a Mediterranean diet as an effective means to prevent as well as improve erectile dysfunction, nephrolithiasis, lower urinary tract symptoms, and urinary incontinence. The review highlights the need for additional research to study the impact of diet on urologic cancers and other urologic conditions such as premature ejaculation, loss of libido, female sexual dysfunction, and overactive bladder.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Dieta Mediterrânea , Sintomas do Trato Urinário Inferior , Ejaculação Precoce , Doenças Urológicas , Neoplasias Urológicas , Masculino , Humanos , Feminino , Estudos Transversais , Neoplasias Urológicas/prevenção & controle , Sintomas do Trato Urinário Inferior/etiologia , Sintomas do Trato Urinário Inferior/prevenção & controle
15.
Curr Urol Rep ; 25(12): 311-323, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-39096463

RESUMO

PURPOSE OF REVIEW: Kidney stone disease (KSD) is a common and potentially life-threatening condition, and half of patients experience a repeat kidney stone episode within 5-10 years. Despite the ~50% estimate heritability of KSD, international guidelines have not kept up with the pace of discovery of genetic causes of KSD. The European Association of Urology guidelines lists 7 genetic causes of KSD as 'high risk'. RECENT FINDINGS: There are currently 46 known monogenic (single gene) causes of kidney stone disease, with evidence of association in a further 23 genes. There is also evidence for polygenic risk of developing KSD. Evidence is lacking for recurrent disease, and only one genome wide association study has investigated this phenomenon, identifying two associated genes (SLC34A1 and TRPV5). However, in the absence of other evidence, patients with genetic predisposition to KSD should be treated as 'high risk'. Further studies are needed to characterize both monogenic and polygenic associations with recurrent disease, to allow for appropriate risk stratification. Durability of test result must be balanced against cost. This would enable retrospective analysis if no genetic cause was found initially. We recommend genetic testing using a gene panel for all children, adults < 25 years, and older patients who have factors associated with high risk disease within the context of a wider metabolic evaluation. Those with a genetic predisposition should be managed via a multi-disciplinary team approach including urologists, radiologists, nephrologists, clinical geneticists and chemical pathologists. This will enable appropriate follow-up, counselling and potentially prophylaxis.


Assuntos
Testes Genéticos , Cálculos Renais , Humanos , Testes Genéticos/métodos , Cálculos Renais/genética , Predisposição Genética para Doença
16.
Acta Chir Belg ; : 1-4, 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39046481

RESUMO

BACKGROUND: Laparoscopic cholecystectomy (LC) is the gold standard management for benign gallbladder diseases. It has been observed that there is alteration in vitamin D levels and bone mineral density after cholecystectomy due to altered enterohepatic circulation. With increase in average age expectancy of the population, low levels of vitamin D levels and osteoporosis after cholecystectomies might cause increased health care burden. METHODS: A prospective observational study was planned between 1 January 2022 and 30 June 2023 in the Department of General Surgery at PGIMER Chandigarh, a tertiary care hospital in north India. One hundred and three post-menopausal women who underwent LC and met the inclusion and exclusion criteria were included in the study. All participants underwent estimation of vitamin D and bone mineral density preoperatively and third-post operative month (POM). RESULTS: The mean age of the patients was 58.46 ± 7.44. Pain abdomen was present in 68(66%) patients, 18 had epigastric discomfort and 17 had dyspepsia. The mean levels of vitamin D decreased from 21.92 at the baseline to 20.12 at third POM (p < .001). There was a significant change in t score Femoral Neck (-1.12 vs -1.15, p < .001) and Lumbar spine L1-L4 - 1.98 vs -1.98 (p = .033). z-scores of the femoral neck were -0.34 vs -0.54 (p < .001) and of lumbar spine L1-L4 were -0.95 vs 1.02 (p < .001). The decrease in fracture risk for the femoral neck (p = .344) and the lumbar spine (p = .223) was not statistically significant. CONCLUSION: There is a significant decrease in vitamin D and BMD levels after LC in post-menopausal females.

17.
Kidney Int ; 104(5): 975-984, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37414395

RESUMO

Urinary stone disease (USD) is a major health burden affecting over 10% of the United Kingdom population. While stone disease is associated with lifestyle, genetic factors also strongly contribute. Common genetic variants at multiple loci from genome-wide association studies account for 5% of the estimated 45% heritability of the disorder. Here, we investigated the extent to which rare genetic variation contributes to the unexplained heritability of USD. Among participants of the United Kingdom 100,000-genome project, 374 unrelated individuals were identified and assigned diagnostic codes indicative of USD. Whole genome gene-based rare variant testing and polygenic risk scoring against a control population of 24,930 ancestry-matched controls was performed. We observed (and replicated in an independent dataset) exome-wide significant enrichment of monoallelic rare, predicted damaging variants in the SLC34A3 gene for a sodium-dependent phosphate transporter that were present in 5% cases compared with 1.6% of controls. This gene was previously associated with autosomal recessive disease. The effect on USD risk of having a qualifying SLC34A3 variant was greater than that of a standard deviation increase in polygenic risk derived from GWAS. Addition of the rare qualifying variants in SLC34A3 to a linear model including polygenic score increased the liability-adjusted heritability from 5.1% to 14.2% in the discovery cohort. We conclude that rare variants in SLC34A3 represent an important genetic risk factor for USD, with effect size intermediate between the fully penetrant rare variants linked with Mendelian disorders and common variants associated with USD. Thus, our findings explain some of the heritability unexplained by prior common variant genome-wide association studies.


Assuntos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc , Cálculos Urinários , Urolitíase , Doenças Urológicas , Humanos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Sódio , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética , Cálculos Urinários/genética , Urolitíase/genética
18.
Am J Kidney Dis ; 82(5): 617-634, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37565942

RESUMO

Kidney stone disease, also known as nephrolithiasis or urolithiasis, is a disorder in which urinary solutes precipitate to form aggregates of crystalline material in the urinary space. The incidence of nephrolithiasis has been increasing, and the demographics have been evolving. Once viewed as a limited disease with intermittent exacerbations that are simply managed by urologists, nephrolithiasis is now recognized as a complex condition requiring thorough evaluation and multifaceted care. Kidney stones are frequently manifestations of underlying systemic medical conditions such as the metabolic syndrome, genetic disorders, or endocrinopathies. Analysis of urine chemistries and stone composition provide a window into pathogenesis and direct ancillary studies to uncover underlying diseases. These studies allow providers to devise individualized strategies to limit future stone events. Given its complexity, kidney stone disease is best addressed by a team led by nephrologists and urologists with input from multiple other health professionals including dietitians, endocrinologists, interventional radiologists, and endocrine surgeons. In this installment of AJKD's Core Curriculum in Nephrology, we provide a case-based overview of nephrolithiasis, divided by the individual stone types. The reader will gain a pragmatic understanding of the pathophysiology, evaluation, and management of this condition.

19.
Arch Microbiol ; 205(12): 383, 2023 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-37973630

RESUMO

Uropathogens have adaptation strategies to survive in the host urinary tract by efficiently utilizing and tolerating the urinary metabolites. Many uropathogens harbour the enzyme urease for the breakdown of urea and the enzymatic breakdown of urea increases the pH and facilitate the struvite crystallization. In this study, the differential urease activity of uropathogenic Escherichia coli and Pseudomonas aeruginosa strains was investigated under different nutritional conditions. The experiments included measurement of growth, pH, urease activity, NH4-N generation and urease gene (ureC) expression among the bacterial strains under different conditions. Further, the implications of urea breakdown on the struvite crystallization in vitro and biofilm formation were also assessed. The study included urease positive isolates and for comparison urease negative isolates were included. Compared to the urease negative strains the urease positive strains formed higher biofilms and motility. The urease positive P. aeruginosa showed significantly higher (p < 0.01) pH and urease activity (A557-A630) compared to E. coli under experimental conditions. Further, supplementation of glucose to the growth media significantly increased the urease activity in P. aeruginosa and in contrast, it was significantly lower in E. coli. The expression profile of urease gene (ureC) was significantly higher (p < 0.001) in P. aeruginosa compared to E. coli and was consistent with the biochemical results of the urease activity under the nutritional conditions. The differential urease activity under two nutritional conditions influenced the biogenic struvite crystallization. It correlated with the urease activity showing higher crystallization rate in P. aeruginosa compared to E. coli. The results highlight the differential urease activity in two common uropathogens under different nutritional conditions that may have significant role on the regulation of virulence, pathogenicity and in the kidney stone disease.


Assuntos
Pseudomonas aeruginosa , Escherichia coli Uropatogênica , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/metabolismo , Urease/genética , Urease/metabolismo , Escherichia coli Uropatogênica/genética , Escherichia coli Uropatogênica/metabolismo , Estruvita , Ureia
20.
World J Urol ; 41(11): 3113-3119, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37733089

RESUMO

INTRODUCTION: The opioid epidemic in the United States is an ongoing public health crisis that is in part fueled by excessive prescribing by physicians. Percutaneous nephrolithotomy (PCNL) is a procedure that conventionally involves opioid prescriptions for adequate post-operative pain control. We aimed to evaluate the feasibility of a non-opioid pain regimen by evaluating post-operative outcomes in PCNL patients discharged without opioids. MATERIALS AND METHODS: As a quality improvement measure to reduce opioid consumption our department began routinely prescribing oral ketorolac instead of oxycodone-acetaminophen for pain control after PCNL. We retrospectively compared patients undergoing PCNL who had received ketorolac prescriptions (NSAID) to those who received oxycodone-acetaminophen prescriptions (NARC). Demographic, operative, and post-operative factors were obtained and compared in both groups. Peri-operative factors and demographics were compared using either Chi-squared tests, Mann-Whitney U tests. Surgical outcomes were compared between the two groups using Chi-squared tests and Fisher's exact tests. Multivariate logistic regression analysis was performed to determine whether ketorolac use was an independent predictor of post-surgical pain-related encounters. Primary outcome was unplanned pain-related healthcare encounters inclusive of office phone calls, unscheduled office visits, and emergency department (ED) visits. Secondary outcome measures were non-pain-related healthcare encounters, hospital readmissions, pain-related rescue medications prescribed, and post-op complications. RESULTS: There were similar demographics and peri-operative characteristics amongst patients in both cohorts. There was no significant difference identified between NSAID and NARC regarding unplanned pain-related encounters (8/70, 11.4% vs. 10/70, 14.3%, p = 0.614). However, NARC experienced more unplanned phone calls (42, 60% vs. 24, 34.3%, p = 0.004). Multivariate analysis revealed only prior stone surgery was predictive of pain-related encounters after PCNL (p = 0.035). CONCLUSION: Our results show that there were no significant differences in pain-related encounters between those who received ketorolac and oxycodone-acetaminophen following PCNL. A non-opioid pathway may mitigate the potential risk associated with opioid prescription without compromising analgesia. Prospective comparative studies are warranted to confirm feasibility.


Assuntos
Analgésicos Opioides , Nefrolitotomia Percutânea , Humanos , Analgésicos Opioides/uso terapêutico , Cetorolaco/uso terapêutico , Nefrolitotomia Percutânea/efeitos adversos , Estudos Retrospectivos , Estudos Prospectivos , Anti-Inflamatórios não Esteroides/uso terapêutico , Dor Pós-Operatória/tratamento farmacológico
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