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1.
Investig Clin Urol ; 65(3): 286-292, 2024 May.
Article En | MEDLINE | ID: mdl-38714519

PURPOSE: To determine the non-contrast computer tomography imaging features of pyonephrosis and evaluate the predictive value of Hounsfield units (HUs) in different hydronephrotic region slices. MATERIALS AND METHODS: We retrospectively reviewed data from patients with hydronephrosis who had renal-ureteral calculi. All patients were categorized into pyonephrosis and simple hydronephrosis groups. Baseline characteristics, the mean HU values in the maximal hydronephrotic region (uHU) slice, and the range of uHU in different slices (ΔuHU) were compared between the two groups. Univariate and multivariate analyses were performed to identify risk factors for pyonephrosis. RESULTS: Among the 181 patients enrolled in the current study, 71 patients (39.2%) were diagnosed with pyonephrosis. The mean dilated pelvis surface areas were comparable between patients with pyonephrosis and simple hydronephrosis (822.61 mm² vs. 877.23 mm², p=0.722). Collecting system debris (p=0.022), a higher uHU (p=0.038), and a higher ΔuHU (p<0.001) were identified as independent risk factors for pyonephrosis based on multivariate analysis. The ΔuHU sensitivity and specificity were 88.7% and 86.4%, respectively, at a cutoff value of 6.56 (p<0.001), whereas the sensitivity and specificity for detecting pyonephrosis at a uHU cutoff value of 7.96 was 50.7% and 70.9%, respectively (p=0.003). CONCLUSIONS: Non-contrast computer tomography was shown to accurately distinguish simple hydronephrosis from pyonephrosis in patients with obstructive uropathy. Evaluation of the ΔuHU in different slices may be more reliable than the uHU acquired from a single slice in predicting pyonephrosis.


Hydronephrosis , Predictive Value of Tests , Pyonephrosis , Tomography, X-Ray Computed , Humans , Pyonephrosis/diagnostic imaging , Pyonephrosis/complications , Female , Male , Retrospective Studies , Middle Aged , Hydronephrosis/diagnostic imaging , Hydronephrosis/etiology , Adult , Aged , Ureteral Calculi/complications , Ureteral Calculi/diagnostic imaging , Ureteral Obstruction/diagnostic imaging , Ureteral Obstruction/complications , Ureteral Obstruction/etiology , Kidney Calculi/complications , Kidney Calculi/diagnostic imaging
2.
J Bras Nefrol ; 46(3): e20230146, 2024.
Article En, Pt | MEDLINE | ID: mdl-38498673

The prevalence of nephrolithiasis is increasing worldwide. Despite advances in understanding the pathogenesis of lithiasis, few studies have demonstrated that specific clinical interventions reduce the recurrence of nephrolithiasis. The aim of this review is to analyze the current data and potential effects of iSGLT2 in lithogenesis and try to answer the question: Should we also "gliflozin" our patients with kidney stone disease?


Kidney Calculi , Nephrolithiasis , Sodium-Glucose Transporter 2 Inhibitors , Humans , Sodium , Sodium-Glucose Transporter 2 Inhibitors/therapeutic use , Sodium-Glucose Transporter 2 , Kidney Calculi/complications , Nephrolithiasis/drug therapy , Nephrolithiasis/epidemiology
3.
J Cell Mol Med ; 28(7): e18235, 2024 Apr.
Article En | MEDLINE | ID: mdl-38509735

Kidney stone, one of the oldest known diseases, has plagued humans for centuries, consistently imposing a heavy burden on patients and healthcare systems worldwide due to their high incidence and recurrence rates. Advancements in endoscopy, imaging, genetics, molecular biology and bioinformatics have led to a deeper and more comprehensive understanding of the mechanism behind nephrolithiasis. Kidney stone formation is a complex, multi-step and long-term process involving the transformation of stone-forming salts from free ions into asymptomatic or symptomatic stones influenced by physical, chemical and biological factors. Among the various types of kidney stones observed in clinical practice, calcareous nephrolithiasis is currently the most common and exhibits the most intricate formation mechanism. Extensive research suggests that calcareous nephrolithiasis primarily originates from interstitial subepithelial calcified plaques and/or calcified blockages in the openings of collecting ducts. These calcified plaques and blockages eventually come into contact with urine in the renal pelvis, serving as a nidus for crystal formation and subsequent stone growth. Both pathways of stone formation share similar mechanisms, such as the drive of abnormal urine composition, involvement of oxidative stress and inflammation, and an imbalance of stone inhibitors and promoters. However, they also possess unique characteristics. Hence, this review aims to provide detailed description and present recent discoveries regarding the formation processes of calcareous nephrolithiasis from two distinct birthplaces: renal interstitium and tubule lumen.


Calcinosis , Kidney Calculi , Humans , Kidney Medulla/metabolism , Kidney Calculi/complications , Kidney Calculi/metabolism , Calcinosis/metabolism , Endoscopy , Inflammation/metabolism
4.
World J Urol ; 42(1): 200, 2024 Mar 27.
Article En | MEDLINE | ID: mdl-38536503

PURPOSE: To evaluate the impact of vacuum-assisted mini-percutaneous nephrolithotomy (vamPCNL) vs. vacuum-cleaner mPCNL (vcmPCNL) on the rate of postoperative infectious complications in a cohort of patients with high risk factors for infections. METHODS: We retrospectively analysed data from 145 patients who underwent mPCNL between 01/2016 and 12/2022. Patient's demographics, stones characteristics and operative data were collected. vamPCNL and vcmPCNL were performed based on the surgeon's preference. High-risk patients were defied as having ≥ 2 predisposing factors for infections such as a history of previous urinary tract infections, positive urine culture before surgery, stone diameter ≥ 3 cm, diabetes mellitus and hydronephrosis. Complications were graded according to modified Clavien classification. Descriptive statistics and logistic regression models were used to identify factors associated with postoperative infectious complications. RESULTS: vamPCNL and vcmPCNL were performed in 94 (64.8%) and 51 (35.2%) cases, respectively. After surgery, infectious complications occurred in 43 (29.7%) participants. Patients who developed infectious complications had larger stone volume (p = 0.02) and higher rate of multiple stones (p = 0.01) than those who did not. Infectious complications occurred more frequently after vcmPCNL than vamPCNL (55.9% vs. 44.1%. p = 0.01) in high-risk patients. Longer operative time (p < 0.01) and length of stay (p < 0.01) were observed in cases with infectious complications. At multivariable logistic regression analysis, longer operative time (OR 1.1, p = 0.02) and vcmPCNL (OR 3.1, p = 0.03) procedures were independently associated with the risk of infectious complications post mPCNL, after accounting for stone volume. CONCLUSION: One out of three high-risk patients showed infectious complications after mPCNL. vamPCL and shorter operative time were independent protective factors for infections after surgery.


Kidney Calculi , Nephrolithotomy, Percutaneous , Urinary Tract Infections , Humans , Nephrolithotomy, Percutaneous/adverse effects , Nephrolithotomy, Percutaneous/methods , Kidney Calculi/complications , Retrospective Studies , Treatment Outcome , Urinary Tract Infections/etiology , Urinary Tract Infections/complications , Postoperative Complications/epidemiology , Postoperative Complications/etiology
5.
Kidney Blood Press Res ; 49(1): 228-238, 2024.
Article En | MEDLINE | ID: mdl-38471493

INTRODUCTION: Upper urinary tract stones combined with parenchymal infiltrative renal pelvic cancer are challenging to detect on imaging and to evaluate the differential diagnosis. CASE PRESENTATION: The symptoms and diagnoses in three cases of parenchymal infiltrative renal pelvic cancer and upper urinary tract stones that occurred between June 2019 and June 2022 were reviewed. Primary symptoms of lumbar discomfort and hematuria were evident in all 3 patients. Preoperative computed tomography (CT) abdominal imaging revealed that all three cases had hydronephrosis along with renal stones, while the other two cases only had localized hypoenhancement of the renal parenchyma, which was only thought to be limited inflammatory changes in the renal cortex as a result of the combination of renal pelvis infection. After percutaneous nephrolithotomy or ureteroscopic lithotripsy, a combined renal pelvis tumor was discovered in all of these instances. Radical tumor surgery was later performed. One patient who had several tumor metastases passed away 6 months after surgery. A case with multiple metastases was discovered 15 months after surgery and survived with the help of the current chemotherapy. A case with a bladder tumor recurrence was discovered 16 months after surgery and had transurethral bladder tumor electrosurgery and routine bladder perfusion chemotherapy. CONCLUSION: Upper urinary tract stones and parenchymal infiltrative pyel carcinoma have atypical imaging, easily confused with infectious diseases. CT or computed tomography urography (CTU) must be considered by urologists. Patients who have a CT with local renal parenchyma density should be suspected of having parenchymal invasive renal pelvis carcinoma; a needle biopsy ought to be performed; and repeat biopsies may be performed if necessary. High-risk individuals need multiple, sufficient biopsies as needed and a comprehensive intraoperative assessment of the renal pelvic mucosa.


Kidney Neoplasms , Kidney Pelvis , Humans , Kidney Neoplasms/complications , Kidney Neoplasms/pathology , Kidney Pelvis/pathology , Kidney Pelvis/diagnostic imaging , Middle Aged , Male , Female , Kidney Calculi/complications , Aged , Tomography, X-Ray Computed
6.
World J Urol ; 42(1): 128, 2024 Mar 09.
Article En | MEDLINE | ID: mdl-38460023

PURPOSES: Our aim is to build and evaluate models to screen for clinically significant nephrolithiasis in overweight and obesity populations using machine learning (ML) methodologies and simple health checkup clinical and urine parameters easily obtained in clinics. METHODS: We developed ML models to screen for clinically significant nephrolithiasis (kidney stone > 2 mm) in overweight and obese populations (body mass index, BMI ≥ 25 kg/m2) using gender, age, BMI, gout, diabetes mellitus, estimated glomerular filtration rate, bacteriuria, urine pH, urine red blood cell counts, and urine specific gravity. The data were collected from hospitals in Kaohsiung, Taiwan between 2012 and 2021. RESULTS: Of the 2928 subjects we enrolled, 1148 (39.21%) had clinically significant nephrolithiasis and 1780 (60.79%) did not. The testing dataset consisted of data collected from 574 subjects, 235 (40.94%) with clinically significant nephrolithiasis and 339 (59.06%) without. One model had a testing area under curve of 0.965 (95% CI, 0.9506-0.9794), a sensitivity of 0.860 (95% CI, 0.8152-0.9040), a specificity of 0.947 (95% CI, 0.9230-0.9708), a positive predictive value of 0.918 (95% CI, 0.8820-0.9544), and negative predictive value of 0.907 (95% CI, 0.8756-0.9371). CONCLUSION: This ML-based model was found able to effectively distinguish the overweight and obese subjects with clinically significant nephrolithiasis from those without. We believe that such a model can serve as an easily accessible and reliable screening tool for nephrolithiasis in overweight and obesity populations and make possible early intervention such as lifestyle modifications and medication for prevention stone complications.


Diabetes Mellitus , Kidney Calculi , Nephrolithiasis , Humans , Overweight/complications , Overweight/epidemiology , Nephrolithiasis/diagnosis , Nephrolithiasis/epidemiology , Nephrolithiasis/etiology , Obesity/complications , Obesity/epidemiology , Kidney Calculi/complications , Body Mass Index
7.
Nutr Metab Cardiovasc Dis ; 34(3): 559-568, 2024 Mar.
Article En | MEDLINE | ID: mdl-38431384

AIMS: Previous studies find kidney stone formers (KSF) are at greater risk of developing cardiovascular disease (CVD). The underlying mechanisms are poorly understood, and many clinicians are unaware of this connection. We will: DATA SYNTHESIS: Our systematic review is registered with PROSPERO (ID CRD42021251477). We searched epidemiological and biological data. The epidemiological search generated 669 papers, narrowed down to 15. There were 4,259,869 participants (230,720 KSFs). KSF was associated with 25% higher risk of coronary artery disease (CAD) (95% confidence interval (CI): 15, 35%), 17% higher risk of stroke/transient ischemic attacks (TIA) (CI:10, 25%) and 39% higher risk of arterial disease (AD) (CI: 17 65%). Significant heterogeneity was found. Female-identifying KSFs had a higher risk of stroke (ratio = 1.10) and CAD (1.20). The biological search generated 125 papers, narrowed down to 14. Potential underlying mechanisms were extracted and discussed, including intimal/medial vascular calcification, oxidative stress via osteopontin (OPN), cholesterol-induced pathology, and endothelial dysfunction. CONCLUSIONS: There is a significant association between KSF and CVD, supporting the consideration of KSF as a systemic, calcium-mediated disease. Clinicians will benefit from being aware of this connection.


Cardiovascular Diseases , Coronary Artery Disease , Kidney Calculi , Stroke , Humans , Female , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/complications , Kidney Calculi/diagnosis , Kidney Calculi/epidemiology , Kidney Calculi/complications , Coronary Artery Disease/diagnosis , Coronary Artery Disease/epidemiology , Stroke/diagnosis , Stroke/epidemiology , Cholesterol
8.
World J Urol ; 42(1): 135, 2024 Mar 13.
Article En | MEDLINE | ID: mdl-38478045

OBJECTIVE: This study aimed to construct and validate a simple and accurate clinical nomogram for predicting the occurrence of post-percutaneous nephrolithotomy sepsis, aiming to assist urologists in the early identification, warning, and early intervention of urosepsis, and to provide certain evidence-based medicine basis. METHODS: This study included patients who underwent PCNL surgery due to kidney or upper ureteral stones at the Department of Urology, Affiliated Hospital of Zunyi Medical University, from January 2019 to September 2022. This study utilized univariate and multivariate logistic regression analysis to screen and evaluate the risk factors for sepsis and construct a predictive model. An evaluation was performed using the receiver operating characteristic curve, calibration curve, and decision curve analysis curve. All statistical analyses were conducted using R version 4.2. RESULTS: A total of 946 patients who underwent post-PCNL were included in this study, among whom 69 patients (7.29%) developed post-PCNL urinary sepsis. Multiple-factor logistic regression analysis identified four independent risk factors associated with post-PCNL urinary sepsis, including positive urinary nitrite (OR = 5.9, P < 0.001), positive urine culture (OR = 7.54, P < 0.001), operative time ≥ 120 min (OR = 20.93, P = 0.0052), and stone size ≥ 30 mm (OR = 13.81, P = 0.0015). The nomogram model demonstrated good accuracy with an AUC value of 0.909, and in the validation cohort, the AUC value was 0.922. The calibration curve indicated a better consistency between the predictive line chart and the actual occurrence of post-PCNL urinary sepsis. The decision curve analysis curve showed favorable clinical utility. CONCLUSION: Preoperative positive urine culture, positive urinary nitrite, operative time ≥ 120 min, and stone size ≥ 30 mm are independent risk factors for developing post-PCNL urinary sepsis. The constructed line chart based on these factors effectively assesses the risk of urinary sepsis in patients after PCNL.


Kidney Calculi , Nephrolithotomy, Percutaneous , Sepsis , Humans , Nephrolithotomy, Percutaneous/adverse effects , Nomograms , Nitrites , Kidney Calculi/complications , Sepsis/epidemiology , Sepsis/etiology , Retrospective Studies
9.
BJU Int ; 133(5): 570-578, 2024 May.
Article En | MEDLINE | ID: mdl-38332669

OBJECTIVE: To assess the impact of kidney stone disease (KSD) and its treatment on the health-related quality of life (HRQOL) of high-risk stone formers with hyperparathyroidism, renal tubular acidosis, malabsorptive disease, and medullary sponge kidney. PATIENTS AND METHODS: The Wisconsin Stone Quality of Life questionnaire was used to evaluate HRQOL in 3301 patients with a history of KSD from 16 institutions in North America between 2014 and 2020. Baseline characteristics and medical history were collected from patients, while active KSD was confirmed through radiological imaging. The high-risk group was compared to the remaining patients (control group) using the Wilcoxon rank-sum test. RESULTS: Of 1499 patients with active KSD included in the study, the high-risk group included 120 patients. The high-risk group had significantly lower HRQOL scores compared to the control group (P < 0.01). In the multivariable analyses, medullary sponge kidney disease and renal tubular acidosis were independent predictors of poorer HRQOL, while alkali therapy was an independent predictor of better HRQOL (all P < 0.01). CONCLUSIONS: Among patients with active KSD, high-risk stone formers had impaired HRQOL with medullary sponge kidney disease and renal tubular acidosis being independent predictors of poorer HRQOL. Clinicians should seek to identify these patients earlier as they would benefit from prompt treatment and prevention.


Kidney Calculi , Quality of Life , Humans , Female , Male , Kidney Calculi/complications , Middle Aged , Adult , Aged , Acidosis, Renal Tubular/complications , Medullary Sponge Kidney/complications , Surveys and Questionnaires
12.
Front Cell Infect Microbiol ; 14: 1194307, 2024.
Article En | MEDLINE | ID: mdl-38343886

A 51-year-old male with a history of Cacchi-Ricci disease and long-standing infection with various species of Borrelia, Babesia, and Bartonella presented with recurrent symptoms of right-sided flank pain. Numerous renal calculi were identified on imaging. The etiology of the calculi had not been previously elucidated. Symptoms intermittently date back to 2002 when uric acid stones were identified. Subsequent calculi analysis revealed calcium oxalate stones. Despite the commonality of nephrolithiasis in patients with Cacchi-Ricci disease, the extreme number of calculi and recurrent presentation of symptoms persisted despite a plethora of medical evaluations, dietary changes, and hereditary testing. This case raises questions of etiology including possible immune deficiency and whether his uncommon microbial history contributes to recurrent stone formation.


Kidney Calculi , Medullary Sponge Kidney , Tick-Borne Diseases , Male , Humans , Middle Aged , Kidney Calculi/complications , Kidney Calculi/diagnosis , Kidney , Medullary Sponge Kidney/complications , Tick-Borne Diseases/complications , Tick-Borne Diseases/diagnosis
13.
BMC Urol ; 24(1): 27, 2024 Feb 02.
Article En | MEDLINE | ID: mdl-38308308

OBJECTIVES: To establish a predictive model for sepsis after percutaneous nephrolithotomy (PCNL) using machine learning to identify high-risk patients and enable early diagnosis and intervention by urologists. METHODS: A retrospective study including 694 patients who underwent PCNL was performed. A predictive model for sepsis using machine learning was constructed based on 22 preoperative and intraoperative parameters. RESULTS: Sepsis occurred in 45 of 694 patients, including 16 males (35.6%) and 29 females (64.4%). Data were randomly segregated into an 80% training set and a 20% validation set via 100-fold Monte Carlo cross-validation. The variables included in this study were highly independent. The model achieved good predictive power for postoperative sepsis (AUC = 0.89, 87.8% sensitivity, 86.9% specificity, and 87.4% accuracy). The top 10 variables that contributed to the model prediction were preoperative midstream urine bacterial culture, sex, days of preoperative antibiotic use, urinary nitrite, preoperative blood white blood cell (WBC), renal pyogenesis, staghorn stones, history of ipsilateral urologic surgery, cumulative stone diameters, and renal anatomic malformation. CONCLUSION: Our predictive model is suitable for sepsis estimation after PCNL and could effectively reduce the incidence of sepsis through early intervention.


Kidney Calculi , Nephrolithotomy, Percutaneous , Nephrostomy, Percutaneous , Sepsis , Male , Female , Humans , Nephrolithotomy, Percutaneous/adverse effects , Nephrostomy, Percutaneous/adverse effects , Kidney Calculi/surgery , Kidney Calculi/complications , Retrospective Studies , Postoperative Complications/diagnosis , Postoperative Complications/etiology , Sepsis/diagnosis , Sepsis/etiology , Machine Learning
14.
Surg Infect (Larchmt) ; 25(2): 140-146, 2024 Mar.
Article En | MEDLINE | ID: mdl-38265838

Background: To investigate retrospectively whether metabolic syndrome (MetS) of flexible ureteroscopy (fURS) lithotripsy can be used to predict post-operative infection. Patients and Methods: After screening, 1,110 patients who received fURS lithotripsy for upper urinary tract stones in our center between January 2015 and December 2022 were analyzed retrospectively. Patients were divided into MetS-positive group and MetS-negative group. Post-operative infection was divided into fever, urosepsis, and septic shock. Relevant data during the peri-operative period were collected. Univariable and multivariable logistic regression analyses were adopted to estimate the impact of metabolic syndrome on post-operative infection in patients undergoing fURS lithotripsy. Results: Among the 1,110 patients, 427 tested positive for MetS, whereas 683 tested negative. Eighty-eight patients suffered from fever (67 patients in the MetS-positive group and 21 in the MetS-negative group). Forty-nine patients had urosepsis (29 patients in the MetS-positive group and 20 in the MetS-negative group), of whom seven patients developed septic shock. No patient developed multiple organ failure or died because of infection. The prevalence of post-operative infections in the MetS-positive group was higher than that in the MetS-negative group (p < 0.001). Multivariable logistic regression analyses showed that diabetes mellitus, MetS-positive, positive urine culture, and longer operation time were positively correlated with post-operative fever. Positive MetS, positive urine culture, and longer operation time were strongly correlated with post-operative urosepsis. Conclusions: Metabolic syndrome was found to be associated with post-operative infection in patients undergoing fURS lithotripsy, suggesting it can serve as a predictive factor.


Kidney Calculi , Lithotripsy , Metabolic Syndrome , Sepsis , Shock, Septic , Urinary Tract Infections , Humans , Ureteroscopy/adverse effects , Metabolic Syndrome/complications , Metabolic Syndrome/epidemiology , Retrospective Studies , Kidney Calculi/complications , Kidney Calculi/surgery , Lithotripsy/adverse effects , Sepsis/etiology , Sepsis/complications , Urinary Tract Infections/epidemiology , Urinary Tract Infections/complications , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Fever , Treatment Outcome
15.
World J Urol ; 42(1): 28, 2024 Jan 12.
Article En | MEDLINE | ID: mdl-38214752

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.


Alcohol Oxidoreductases , Hyperoxaluria , Kidney Calculi , Humans , Calcium , Case-Control Studies , Kidney Calculi/complications , Hyperoxaluria/genetics , Oxalates/urine , Parathyroid Hormone , Creatinine
16.
Pediatr Nephrol ; 39(5): 1429-1434, 2024 May.
Article En | MEDLINE | ID: mdl-38057433

BACKGROUND: The objective of this study was to explore the frequency of occurrence of extra-renal manifestations associated with monogenic nephrolithiasis. METHODS: A literature review was conducted to identify genes that are monogenic causes of nephrolithiasis. The Online Mendelian Inheritance in Man (OMIM) database was used to identify associated diseases and their properties. Disease phenotypes were ascertained using OMIM clinical synopses and sorted into 24 different phenotype categories as classified in OMIM. Disease phenotypes caused by the same gene were merged into a phenotypic profile of a gene (PPG) such that one PPG encompasses all related disease phenotypes for a specific gene. The total number of PPGs involving each phenotype category was measured, and the median phenotype category was determined. Phenotype categories were classified as overrepresented or underrepresented if the number of PPGs involving them was higher or lower than the median, respectively. Chi-square test was conducted to determine whether the number of PPGs affecting a given category significantly deviated from the median. RESULTS: Fifty-five genes were identified as monogenic causes of nephrolithiasis. A total of six significantly overrepresented and three significantly underrepresented phenotype categories were identified (p < 0.05). Four phenotypic categories (growth, neurological, skeletal, and abdomen/gastrointestinal) are significantly overrepresented after Bonferroni correction for multiple comparisons (p < 0.002). Among all phenotypes, impaired growth is the most common manifestation. CONCLUSION: Recognizing the extra-renal manifestations associated with monogenic causes of kidney stones is critical for earlier diagnosis and optimal care in patients.


Kidney Calculi , Nephrolithiasis , Humans , Nephrolithiasis/epidemiology , Kidney Calculi/complications , Phenotype , Kidney
17.
J Pediatr Urol ; 20(1): 88.e1-88.e9, 2024 02.
Article En | MEDLINE | ID: mdl-37848358

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inborn error of metabolism that causes oxalate deposition, leading to recurrent calcium oxalate kidney stones, chronic kidney disease and systemic oxalosis, which produces a broad range of serious life-threatening complications. Patients with PH1 have delayed diagnosis due to the rarity of the disease and the overlap with early-onset kidney stone disease not due to primary hyperoxaluria. OBJECTIVE: The objective of this study was to determine the clinical features of individuals <21 years of age with PH1 that precede its diagnosis. We hypothesized that a parsimonious set of features could be identified that differentiate patients with PH1 from patients with non-primary hyperoxaluria-associated causes of early-onset kidney stone disease. STUDY DESIGN: We determined the association between clinical characteristics and PH1 diagnosis in a case-control study conducted between 2009 and 2021 in PEDSnet, a clinical research network of eight US pediatric health systems. Each patient with genetically confirmed PH1 was matched by sex and PEDSnet institution to up to 4 control patients with kidney stones without PH of any type. We obtained patient characteristics and diagnostic test results occurring before to less than 6 months after study entrance from a centralized database query and from manual chart review. Differences were examined using standardized differences and multivariable regression. RESULTS: The study sample included 37 patients with PH1 and 147 controls. Patients with PH1 were younger at diagnosis (median age of 3 vs 13.5 years); 75 % of children with PH1 were less than 8 years-old. Patients with PH1 were more likely to have combinations of nephrocalcinosis on ultrasound or CT (43 % vs 3 %), lower eGFR at diagnosis (median = 52 mL/min/1.73 m2 vs 114 mL/min/1.73 m2), and have normal mobility. Patients with PH1 had higher proportion of calcium oxalate monohydrate kidney stones than controls (median = 100 % vs 10 %). There were no differences in diagnosis of failure to thrive, stone size, or echocardiography results. CONCLUSIONS: Children with PH1 are characterized by presentation before adolescence, nephrocalcinosis, decreased eGFR at diagnosis, and calcium oxalate monohydrate stone composition. If externally validated, these characteristics could facilitate earlier diagnosis and treatment of children with PH1.


Hyperoxaluria, Primary , Kidney Calculi , Kidney Failure, Chronic , Nephrocalcinosis , Nephrolithiasis , Adolescent , Humans , Child , Nephrocalcinosis/diagnosis , Calcium Oxalate/metabolism , Case-Control Studies , Kidney Failure, Chronic/etiology , Kidney Calculi/etiology , Kidney Calculi/complications
18.
Am J Gastroenterol ; 119(1): 138-146, 2024 Jan 01.
Article En | MEDLINE | ID: mdl-37566886

INTRODUCTION: The burden of kidney and urological complications in patients with inflammatory bowel disease (IBD) remains poorly characterized. METHODS: We analyzed association between developing IBD (as a time-varying exposure) and relative risks of receiving diagnoses of chronic kidney disease (CKD), acute kidney injury (AKI), or kidney stones, and experiencing a clinically-relevant decline in estimated glomerular filtration rate (eGFR) (CKD progression; composite of kidney failure or an eGFR decline ≥30%) in 1,682,795 individuals seeking healthcare in Stockholm, Sweden, during 2006-2018. We quantified 5- and 10-year absolute risks of these complications in a parallel matched cohort of IBD cases and random controls matched (1:5) on sex, age, and eGFR. RESULTS: During median 9 years, 10,117 participants developed IBD. Incident IBD was associated with higher risks of kidney-related complications compared with non-IBD periods: hazard ratio (HR) (95% confidence interval) was 1.24 (1.10-1.40) for receiving a CKD diagnosis and 1.11 (1.00-1.24) for CKD progression. For absolute risks, 11.8% IBD cases had a CKD event within 10-year. Of these, 6.4% received a CKD diagnosis, and 7.9% reached CKD progression. The risks of AKI (HR 1.97 [1.70-2.29]; 10-year absolute risk 3.6%) and kidney stones (HR 1.69 [1.48-1.93]; 10-year absolute risk 5.6%) were also elevated. Risks were similar in Crohn's disease and ulcerative colitis. DISCUSSION: More than 10% of patients with IBD developed CKD within 10-year from diagnosis, with many not being identified through diagnostic codes. This, together with their elevated AKI and kidney stone risks, highlights the need of established protocols for kidney function monitoring and referral to nephrological/urological care for patients with IBD.


Acute Kidney Injury , Inflammatory Bowel Diseases , Kidney Calculi , Renal Insufficiency, Chronic , Humans , Risk , Kidney , Inflammatory Bowel Diseases/complications , Inflammatory Bowel Diseases/epidemiology , Inflammatory Bowel Diseases/diagnosis , Renal Insufficiency, Chronic/etiology , Renal Insufficiency, Chronic/complications , Acute Kidney Injury/epidemiology , Acute Kidney Injury/etiology , Acute Kidney Injury/diagnosis , Kidney Calculi/epidemiology , Kidney Calculi/complications , Risk Factors
19.
Fr J Urol ; 34(1): 102522, 2024 Jan.
Article En | MEDLINE | ID: mdl-37758606

INTRODUCTION: Patients with neurologic bladder are at an increased risk for urolithiasis, and currently, data on mini-percutaneous nephrolithotomy in this population are limited. Our objective was to compare mini (15F)-percutaneous nephrolithotomy, standard (24F)-PCNL and flexible ureteroscopy in terms of efficacy and safety in treatment of kidney stones in patients with neurogenic lower urinary tract dysfunction (NLUTD). METHODS: We conducted a retrospective monocentric study in our neuro-urological referral centre. All consecutive patients with NLUTD and a cumulative size of renal calculi greater than 15mm or 10mm in the lower calyx, who had extraction surgery between 2005 and 2020, were included. The primary endpoint was the one-session stone-free rate (SFR) at 3 months on a CT scan. The secondary endpoints were complication (Clavien-Dindo grading system), operative time, blood loss and length of hospital stay. RESULTS: We performed 76 standard PCNL (sPCNL), 46 flexible ureteroscopy lithotripsy (fURL) and 25 miniaturized PCNL (mPCNL). The one-session SFR was 37.5% for the mPCNL group, 38.2% for the sPCNL group and 37% for the fURL group with no significant difference between the three procedures (P=0.99). Early complications, blood loss and transfusion rates were lower in the mPCNL group than in the sPCNL group (P=0.047) and comparable to fURL group. The final SFRs after a second intervention for mPCNL, sPCNL and fURL were 48%, 61.8% and 63%, respectively (P=0.67). CONCLUSION: The efficacy of mPCNL in patients with NLUTD was not different from other techniques, but a significantly lower rate of complications than sPCNL was observed. LEVEL OF PROOF: 3.


Kidney Calculi , Nephrolithotomy, Percutaneous , Urinary Bladder, Neurogenic , Humans , Nephrolithotomy, Percutaneous/adverse effects , Urinary Bladder, Neurogenic/etiology , Retrospective Studies , Treatment Outcome , Kidney Calculi/complications
20.
Int Urol Nephrol ; 56(1): 35-44, 2024 Jan.
Article En | MEDLINE | ID: mdl-37725273

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. RESULTS: A total of 38,617 participants were enrolled and classified into two groups according to whether they ever had (n = 3689) or did not have (n = 34,928) KSD. After multivariate logistic regression models, compared to quartile 1 (Q1) of lipid profile, the participants in Q3 (OR 0.8380; 95 CI 0.7380, 0.9515, P < 0.01) and Q4 (OR 0.7373; 95 CI 0.6377, 0.8525, P < 0.01) of high-density lipoprotein cholesterol (HDL) had a significantly lower risk of KSD in adjusted model 3. Results remained stable after stratified by age, gender, and body mass index (BMI) in subgroup analysis. No association was observed between low-density lipoprotein cholesterol (LDL), total cholesterol (TC) and triglycerides (TG) levels, and KSD. CONCLUSIONS: Low HDL was associated with a higher risk of kidney stones in the USA adult population.


Dyslipidemias , Kidney Calculi , Adult , Humans , Nutrition Surveys , Cross-Sectional Studies , Cholesterol, HDL , Kidney Calculi/epidemiology , Kidney Calculi/complications , Dyslipidemias/complications , Triglycerides
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