1.Clinical application of combined pancreaticobiliary brushing under endoscopic retrograde cholangiopancreatography in ampulla malignant tumours
Haowei CHEN ; Changbao PAN ; Weiwei CHEN ; Juan CHEN ; Denghao DENG ; Qingcheng XU
China Journal of Endoscopy 2025;31(4):39-43
Objective To investigate the clinical application value of combined pancreaticobiliary brushing under endoscopic retrograde cholangiopancreatography(ERCP)in the treatment of hepatopancreatic ampulla malignant tumours.Methods We retrospectively analyzed 59 patients from January 2013 to December 2023 for ERCP treatment of hepatopancreatic ampulla tumours,and performed combined pancreaticobiliary brushing(combined pancreaticobiliary brushing group,n=10)and biliary duct brushing alone(biliary duct brushing group,n=49)respectively,then compared the positive pathological detection rate of hepatopancreatic ampulla malignant tumours,the magnitude of bilirubin reduction,and the occurrence of postoperative complications between the two groups.Results The positive detection rate of combined pancreaticobiliary brushing for diagnosing ampulla malignant tumours was 70.0%(7/10),and the positive detection rate of biliary duct brushing alone was 22.4%(11/49),and the positive detection rate of pathology in the two groups was statistically significant(P<0.05);No significant statistical difference was observed in the decrease of bilirubin between the two groups(P>0.05);There were three cases of post-operative complications in the biliary duct brushing group.There were no postoperative complications in the combined pancreaticobiliary brushing group.Conclusion Compared with bile duct brushing alone,combined pancreaticobiliary brushing is more helpful for the diagnosis of malignant tumours,and does not increase the incidence of complications.It is worthy for clinical application.
2.Clinical characteristics and risk factors in patients with upper urinary tract stones complicated with non-alcoholic fatty liver disease
Enxu XIE ; Xuelian GU ; Xiaohan CHU ; Shengwei ZHANG ; Xinze XIA ; Xiaofu WANG ; Changwei LIU ; Changbao XU
Journal of Modern Urology 2025;30(7):571-575
Objective To explore the clinical characteristics and risk factors of upper urinary tract stones complicated with non-alcoholic fatty liver disease(NAFLD),so as to provide reference for the prevention of this disease.Methods The clinical data of 158 NAFLD patients undergoing surgical treatment in our hospital during Jan.2022 and Jul.2023 were retrospectively analyzed.According to whether the patients were complicated with NAFLD,they were divided into the NAFLD group(n=56)and non-NAFLD group(n=102).The general data,laboratory indexes and 24-h urinary metabolic indexes were compared between the two groups,and the risk factors were analyzed with univariate and multivariate logistic regression analyses.Results Compared with the non NAFLD group,the NAFLD group had higher BMI[(28.17±4.17)vs.(24.11±3.72),P<0.001],blood uric acid[(354.13±111.01)μmol/L vs.(294.41±93.72)μmol/L,P<0.001],and 24-h urinary oxalate level[(37.74±15.00)mmol vs.(27.73±15.27)mmol,P<0.001].Multivariate logistic analysis showed that BMI(OR=1.311,P<0.001),24-h urinary oxalate(OR=1.046,P=0.004),and 24-h urinary magnesium(OR=0.599,P=0.002)were the independent factors for NAFLD with upper urinary tract stones.Conclusion NAFLD complicated with upper urinary tract stones is significantly associated with high BMI,high 24-h urinary oxalate,and low 24-h urinary magnesium.
3.Analysis of risk factors of postoperative fungal infection in patients with upper urinary tract calculi and construction of a risk prediction nomograph model
Haofang ZHANG ; Shuo WANG ; Xiaofu WANG ; Shengwei ZHANG ; Enxu XIE ; Yifan HU ; Changbao XU
Chinese Journal of Urology 2025;46(3):205-212
Objective:To explore the risk factors of fungal infection in patients with upper urinary tract calculi after surgery and construct a risk prediction nomograph model.Methods:The clinical data of 2 329 patients who had undergone upper urinary calculus surgery in the Second Affiliated Hospital of Zhengzhou University from January 2019 to December 2023 were retrospectively analyzed. According to the presence or absence of fungal infection within 3 months after surgery, the patients were divided into fungal infection group (n=97) and non-fungal infection group (n=2 232). Univariate logistic regression analysis and LASSO regression were used to screen the potential influencing factors. The enrolled patients were randomly divided into a training set (n=1 630) and a validation set (n=699) at a ratio of 7∶3. Based on the training set, multivariate logistic stepwise regression was used to screen independent risk factors and to construct a nomogram. Based on the validation set, ROC curve, calibration curve and decision curve were drawn to evaluate the model's differentiation, accuracy and clinical applicability.Results:Univariate logistic regression analysis showed that female gender, age, diabetes mellitus, history of malignant tumor, long-term bedridden disease, long-term use of immunosuppressants, hemoglobin on admission, serum creatinine, uric acid, white blood cell count on admission, neutrophil count on admission, degree of hydronephrosis, preoperative indwelling ureteral stent, duration of surgery, postoperative fever within 48 hours, white blood cell count, neutrophil count, CRP, urinary catheter indwelling time, length of hospital stay, use of carbapenem antibiotics, the duration of antibiotic use and the duration of postoperative ureteral stent indwelling were related to fungal infection. screening after upper urinary calculi surgery ( P<0.05). Univariate logistic regression results were screened after LASSO regression. Multivariate logistic stepwise regression analysis for the training set showed that age ( OR=1.041, 95% CI 1.017-1.066, P=0.001), diabetes( OR=3.138, 95% CI 1.517-6.492, P=0.002), long-term bed-rest ( OR=10.627, 95% CI 3.671-30.767, P<0.001), history of malignant tumor( OR=11.934, 95% CI 5.473-26.022, P<0.001), white blood cell count on admission( OR=1.276, 95% CI 1.134-1.436, P<0.001), postoperative fever within 48 hours ( OR=3.940, 95% CI 1.956-7.937, P<0.001), use of carbapenem antibiotics( OR=5.826, 95% CI 2.783-12.196, P<0.001), length of hospital stay( OR=1.201, 95% CI 1.131-1.277, P<0.001), and postoperative retention time of ureteral stent( OR=1.205, 95% CI 1.104-1.315, P<0.001) were independent risk factors for fungal infection after upper urinary calculi surgery.The nomogram model was constructed based on independent risk factors. The results of ROC curve analysis showed that the AUC of the nomogram model in the prediction validation set was 0.955(95% CI 0.926-0.984). The calibration curve of the model was well fitted to the ideal curve. The results of decision curve analysis proved that the net benefit rate of the prediction model within the threshold range was higher than the two extreme lines when the threshold probability was <86%, indicating that the model was of good clinical applicability. Conclusions:Age, diabetes, history of malignant tumor, long-term bed-rest disease, white blood cell count on admission, postoperative fever within 48 hours, use of carbapenem antibiotics, length of hospital stay, and postoperative retention time of ureteral stent are independent risk factors for fungal infection in patients with upper urinary calculi after surgery. The model constructed in this study has good predictive ability and clinical applicability for the risk of fungal infection in patients with upper urinary calculi after surgery.
4.The value of whole exome sequencing in the etiological diagnosis and treatment of urolithiasis
Yongli ZHAO ; Changbao XU ; Xiaofu WANG ; Xinyu SHI ; Changwei LIU ; Wuxue LI ; Danhua LIU ; Hongen XU
Chinese Journal of Urology 2025;46(10):739-744
Objective:To evaluate the role of whole exome sequencing(WES)in the etiological diagnosis and precision medicine management of patients with urolithiasis.Methods:We conducted a retrospective review of 21 patients with urolithiasis and pathogenic gene mutations identified by WES at The Second Affiliated Hospital of Zhengzhou University between April 2019 and March 2025. The cohort included 13 males and 8 females,with a mean age of(18.9 ± 11.1)years;18 patients were under 25 years old. Clinical presentations included nephrocalcinosis(8 patients)and urinary tract calculi(13 patients),with five patients exhibiting extra-renal manifestations such as renal tubular acidosis and hyperaldosteronism. Stone composition analysis identified calcium oxalate(16 patients),cystine(4 patients),and carbonate apatite(1 patient). Metabolic abnormalities were prevalent,including hypocitraturia(11 patients),hyperoxaluria(8 patients),and hypercalciuria(7 patients),with eight patients presenting two or more concurrent disorders. All patients underwent WES and comprehensive metabolic evaluation. Sequencing was performed on an Illumina Hiseq4000 platform,achieving a mean depth of > 100× and coverage of > 98% in target regions. Variants were classified according to the American College of Medical Genetics and Genomics(ACMG)guidelines.Results:WES identified 12 distinct genes across autosomal recessive(9 genes: AGXT, GRHPR, ATP6V1B1, SLC12A1, KCNJ1, SLC3A1, SLC7A9, SLC34A3, WFS1),autosomal dominant(2 genes: CASR, ADCY10),and X-linked recessive(1 gene: CLCN5)inheritance patterns. Genotype-phenotype correlations revealed mutations associated with primary hyperoxaluria(8 patients),hypercalciuria(7 patients),and renal malformation due to a WFS1 mutation(1 patient). A positive genetic diagnosis was achieved in 100% of patients with either urinary oxalate > 1 000 μmol/24 h or cystine stones. 8 patients received a diagnosis of hereditary stone disease at their first presentation(non-delayed group),while 13 experienced a mean diagnostic delay of(9.6 ± 3.9)years. The delayed diagnosis group had a significantly older age at initial stone onset[(10.2 ± 5.3)years vs.(6.8 ± 3.1)years, P = 0.03]and a higher incidence of impaired renal function(6 patients vs. 1 patient, P = 0.04). Analysis of diagnostic delay by gene subgroup showed delays in 2/4 patients with cystinuria[ SLC3A1/ SLC7A9;(8.2 ± 3.5)years],5/8 with primary hyperoxaluria[ AGXT/ GRHPR;(10.5 ± 4.1)years],5/7 with hypercalciuria-related genes[ CASR/ ADCY10/ SLC12A1/ KCNJ1/ SLC34A3;(9.8 ± 3.8)years],and 1/2 with other genes[ ATP6V1B1/ WFS1/ CLCN5;(7.6 ± 2.2)years]. Among 32 mutation sites detected,21 were classified as pathogenic/likely pathogenic and 11 as variants of uncertain significance. Four novel mutations were identified: ATP6V1B1(presenting with renal tubular acidosis,nephrocalcinosis,and hypocitraturia), WFS1(presenting with renal malrotation,hydronephrosis,and stones without metabolic abnormalities), SLC12A1(presenting with Bartter syndrome type 1,chronic renal insufficiency,hypercalciuria,hypocitraturia,alkalosis,and hyperaldosteronism),and SLC3A1(presenting with bilateral renal stones and cystinuria). Conclusions:WES is crucial in identifying the underlying etiology of urolithiasis and can guide targeted treatment. We recommend early WES for patients with an initial stone presentation before age 25,those with nephrocalcinosis,or those with abnormal metabolic workups to facilitate precise diagnosis and preventive care.
5.From historical insights to future frontiers: exploration and innovation in the etiology and prevention of urolithiasis
Kunjie WANG ; Guohua ZENG ; Jianxing LI ; Kewei XU ; Xiaofeng GAO ; Changbao XU ; Bin CHEN ; Xiao YU ; Kefeng XIAO ; Jun LI ; Hao HU ; Hong LI ; Zhangqun YE
Chinese Journal of Urology 2025;46(10):721-724
Urolithiasis represents a prevalent clinical challenge marked by high recurrence rates and morbidity,with existing preventive strategies struggling to effectively curb its epidemic trajectory,thereby posing a significant threat to public health. The etiology of this condition is intricate,involving a complex network of interactions spanning classical supersaturation-crystallization theory,Randall’s plaque theory,and multifactorial elements such as cellular injury,inflammatory responses,metabolic derangements,the gut-kidney axis,immune dysregulation,and genetic predisposition. However,the critical mechanisms initiating stone formation and the early pathophysiological processes remain incompletely elucidated,constituting the core impasse in current preventive strategies. This review systematically synthesizes classical theories and cutting-edge advancements in urolithiasis etiology research,emphasizing the urgent need to integrate emerging technologies,including high-dimensional omics,advanced imaging modalities,and artificial intelligence,to dissect pivotal pathological nodes in early stone formation. Such interdisciplinary efforts are essential to overcome cognitive bottlenecks and ultimately achieve personalized,precision-based prevention strategies.
6.Efficacy of intelligent temperature-pressure-controlled flexible ureteroscopy combined with negative-pressure suction sheath lithotripsy in the treatment of ≤2.5 cm upper urinary tract stones
Xiaofu WANG ; Yunxiang ZHANG ; Xinyu SHI ; Yongli ZHAO ; Changbao XU ; Changwei LIU ; Haiyang WEI ; Xinghua ZHAO
Journal of Modern Urology 2025;30(4):311-314
Objective: To investigate the efficacy and safety of intelligent temperature-pressure-controlled flexible ureteroscopy combined with negative-pressure suction sheath lithotripsy in the treatment of upper urinary tract stones ≤2.5 cm. Methods: The clinical data of 225 patients with ≤2.5 cm upper urinary tract stones treated with this surgical method in our department during Aug. 2023 and Jul. 2024 were retrospectively analyzed. The patients were divided into the dual-control group (n=36) and conventional group (n=189) according to whether or not the intelligent temperature and pressure control device was used during operation. In the dual-control group,the intraoperative temperature and pressure in the renal pelvis were monitored and controlled in real time by the temperature and pressure sensors distributed at the end of the ureteral soft lens. The perioperative parameters,stone-removal rate,complication rate and renal function were compared between the two groups. Results: All operations were successfully completed in both groups. The postoperative procalcitonin (PCT) level [(22.75±5.85) ng/L vs. (29.08±6.60) ng/L,P=0.001],difference in the white blood cell (WBC) level [(0.24±2.12)×10
cells/L vs. (1.19±2.17)×10
cells/L,P=0.016],incidence of fever (2.8% vs. 16.9%,P=0.028) and overall complication rate (5.6% vs. 19.6%,P=0.042) were significantly lower in the dual-control group than in the conventional group,while the stone-clearance rate was slightly higher (88.9% vs. 82.5%,P=0.346),with no significant difference. Conclusion: For upper urinary tract stones ≤2.5 cm,intelligent temperature-pressure-controlled ureteroscopy combined with negative-pressure suction sheath lithotripsy has a satisfactory stone-removal rate and a low rate of complications,which is worthy of clinical promotion.
7.Preoperative prediction of factors associated with impacted ureteral stones and construction of a nomogram model
Xinyu SHI ; Haiyang WEI ; Changbao XU ; Wuxue LI ; Xiaofu WANG ; Tianhe ZHANG ; Zhiheng HUANG ; Xinghua ZHAO
Chinese Journal of Urology 2025;46(9):669-675
Objective:To explore the predictive factors for ureteral stone impaction preoperatively and to construct a nomogram prediction model for impacted ureteral stones.Methods:A retrospective analysis was conducted on the clinical data of 209 patients with ureteral stones treated at The Second Affiliated Hospital of Zhengzhou University from July 2023 to June 2024. There were 164 males(78.5%)and 45 females(21.5%). The age was 49(47,57)years,and the body mass index(BMI)was 25.10(23.55,27.24)kg/m2. Of the patients,85(40.7%)had comorbid hypertension and 85(40.7%)had comorbid diabetes. Stones were located on the left side in 124 patients(59.3%)and on the right side in 85 patients(40.7%). Hydronephrosis was present in 169 patients(80.9%),and urine culture was positive in 29 patients(13.9%). Patients were divided into impacted and non-impacted groups based on the presence or absence of ureteral stone impaction. Univariate and multivariate logistic regression analyses were performed to determine independent predictive factors for impacted ureteral stones. A nomogram model was constructed based on these results. The performance of the predictive model was evaluated using receiver operating characteristic(ROC)curves,calibration plots,and decision curve analysis(DCA).Results:Among the 209 patients in this study,85(40.7%)experienced ureteral stone impaction. The impacted group had a significantly higher neutrophil-to-lymphocyte ratio(NLR)than the non-impacted group(3.91 ± 2.05 vs. 3.25 ± 2.10, P = 0.024),a higher rate of hydronephrosis[81.2%(69/85)vs. 80.6%(100/124), P = 0.002],larger stone surface area[(64.96 ± 39.96)mm2 vs.(51.86 ± 39.80)mm2, P = 0.021],greater ureteral wall thickness(UWT)[(3.96 ± 1.37)mm vs.(3.06 ± 1.33)mm, P < 0.001],and a higher ratio of the upper ureter diameter(D1)to the lower ureter diameter(D2)(DDR)(2.87 ± 1.58 vs. 2.00 ± 0.99, P < 0.001). Univariate analysis showed that NLR,hydronephrosis,stone length,stone surface area,UWT,D1,D2,and DDR were statistically significant( P < 0.05). After multivariate logistic regression analysis,the following items were identified as independent predictors of impacted ureteral stones:NLR( OR = 1.205,95% CI 1.026 - 1.415, P = 0.023),hydronephrosis( OR = 1.840,95% CI 1.236 - 2.740, P = 0.003),stone length( OR = 1.587,95% CI 1.142 - 2.206, P = 0.006),ureteral wall thickness(UWT)( OR = 1.643,95% CI 1.263 - 2.136, P < 0.001),and DDR( OR = 2.907,95% CI 1.040 - 8.130, P = 0.042).Based on these independent predictive factors,a nomogram prediction model for impacted ureteral stones was constructed. The area under the ROC curve was 0.797(95% CI 0.737 - 0.858),and the calibration curve showed good consistency. The decision curve suggested that the model had good clinical net benefit. Conclusions:NLR,hydronephrosis,stone length,UWT,and DDR are all independent predictors for impacted ureteral stones. The nomogram model constructed based on these factors has good predictive performance.
8.Analysis of risk factors of postoperative fungal infection in patients with upper urinary tract calculi and construction of a risk prediction nomograph model
Haofang ZHANG ; Shuo WANG ; Xiaofu WANG ; Shengwei ZHANG ; Enxu XIE ; Yifan HU ; Changbao XU
Chinese Journal of Urology 2025;46(3):205-212
Objective:To explore the risk factors of fungal infection in patients with upper urinary tract calculi after surgery and construct a risk prediction nomograph model.Methods:The clinical data of 2 329 patients who had undergone upper urinary calculus surgery in the Second Affiliated Hospital of Zhengzhou University from January 2019 to December 2023 were retrospectively analyzed. According to the presence or absence of fungal infection within 3 months after surgery, the patients were divided into fungal infection group (n=97) and non-fungal infection group (n=2 232). Univariate logistic regression analysis and LASSO regression were used to screen the potential influencing factors. The enrolled patients were randomly divided into a training set (n=1 630) and a validation set (n=699) at a ratio of 7∶3. Based on the training set, multivariate logistic stepwise regression was used to screen independent risk factors and to construct a nomogram. Based on the validation set, ROC curve, calibration curve and decision curve were drawn to evaluate the model's differentiation, accuracy and clinical applicability.Results:Univariate logistic regression analysis showed that female gender, age, diabetes mellitus, history of malignant tumor, long-term bedridden disease, long-term use of immunosuppressants, hemoglobin on admission, serum creatinine, uric acid, white blood cell count on admission, neutrophil count on admission, degree of hydronephrosis, preoperative indwelling ureteral stent, duration of surgery, postoperative fever within 48 hours, white blood cell count, neutrophil count, CRP, urinary catheter indwelling time, length of hospital stay, use of carbapenem antibiotics, the duration of antibiotic use and the duration of postoperative ureteral stent indwelling were related to fungal infection. screening after upper urinary calculi surgery ( P<0.05). Univariate logistic regression results were screened after LASSO regression. Multivariate logistic stepwise regression analysis for the training set showed that age ( OR=1.041, 95% CI 1.017-1.066, P=0.001), diabetes( OR=3.138, 95% CI 1.517-6.492, P=0.002), long-term bed-rest ( OR=10.627, 95% CI 3.671-30.767, P<0.001), history of malignant tumor( OR=11.934, 95% CI 5.473-26.022, P<0.001), white blood cell count on admission( OR=1.276, 95% CI 1.134-1.436, P<0.001), postoperative fever within 48 hours ( OR=3.940, 95% CI 1.956-7.937, P<0.001), use of carbapenem antibiotics( OR=5.826, 95% CI 2.783-12.196, P<0.001), length of hospital stay( OR=1.201, 95% CI 1.131-1.277, P<0.001), and postoperative retention time of ureteral stent( OR=1.205, 95% CI 1.104-1.315, P<0.001) were independent risk factors for fungal infection after upper urinary calculi surgery.The nomogram model was constructed based on independent risk factors. The results of ROC curve analysis showed that the AUC of the nomogram model in the prediction validation set was 0.955(95% CI 0.926-0.984). The calibration curve of the model was well fitted to the ideal curve. The results of decision curve analysis proved that the net benefit rate of the prediction model within the threshold range was higher than the two extreme lines when the threshold probability was <86%, indicating that the model was of good clinical applicability. Conclusions:Age, diabetes, history of malignant tumor, long-term bed-rest disease, white blood cell count on admission, postoperative fever within 48 hours, use of carbapenem antibiotics, length of hospital stay, and postoperative retention time of ureteral stent are independent risk factors for fungal infection in patients with upper urinary calculi after surgery. The model constructed in this study has good predictive ability and clinical applicability for the risk of fungal infection in patients with upper urinary calculi after surgery.
9.The value of whole exome sequencing in the etiological diagnosis and treatment of urolithiasis
Yongli ZHAO ; Changbao XU ; Xiaofu WANG ; Xinyu SHI ; Changwei LIU ; Wuxue LI ; Danhua LIU ; Hongen XU
Chinese Journal of Urology 2025;46(10):739-744
Objective:To evaluate the role of whole exome sequencing(WES)in the etiological diagnosis and precision medicine management of patients with urolithiasis.Methods:We conducted a retrospective review of 21 patients with urolithiasis and pathogenic gene mutations identified by WES at The Second Affiliated Hospital of Zhengzhou University between April 2019 and March 2025. The cohort included 13 males and 8 females,with a mean age of(18.9 ± 11.1)years;18 patients were under 25 years old. Clinical presentations included nephrocalcinosis(8 patients)and urinary tract calculi(13 patients),with five patients exhibiting extra-renal manifestations such as renal tubular acidosis and hyperaldosteronism. Stone composition analysis identified calcium oxalate(16 patients),cystine(4 patients),and carbonate apatite(1 patient). Metabolic abnormalities were prevalent,including hypocitraturia(11 patients),hyperoxaluria(8 patients),and hypercalciuria(7 patients),with eight patients presenting two or more concurrent disorders. All patients underwent WES and comprehensive metabolic evaluation. Sequencing was performed on an Illumina Hiseq4000 platform,achieving a mean depth of > 100× and coverage of > 98% in target regions. Variants were classified according to the American College of Medical Genetics and Genomics(ACMG)guidelines.Results:WES identified 12 distinct genes across autosomal recessive(9 genes: AGXT, GRHPR, ATP6V1B1, SLC12A1, KCNJ1, SLC3A1, SLC7A9, SLC34A3, WFS1),autosomal dominant(2 genes: CASR, ADCY10),and X-linked recessive(1 gene: CLCN5)inheritance patterns. Genotype-phenotype correlations revealed mutations associated with primary hyperoxaluria(8 patients),hypercalciuria(7 patients),and renal malformation due to a WFS1 mutation(1 patient). A positive genetic diagnosis was achieved in 100% of patients with either urinary oxalate > 1 000 μmol/24 h or cystine stones. 8 patients received a diagnosis of hereditary stone disease at their first presentation(non-delayed group),while 13 experienced a mean diagnostic delay of(9.6 ± 3.9)years. The delayed diagnosis group had a significantly older age at initial stone onset[(10.2 ± 5.3)years vs.(6.8 ± 3.1)years, P = 0.03]and a higher incidence of impaired renal function(6 patients vs. 1 patient, P = 0.04). Analysis of diagnostic delay by gene subgroup showed delays in 2/4 patients with cystinuria[ SLC3A1/ SLC7A9;(8.2 ± 3.5)years],5/8 with primary hyperoxaluria[ AGXT/ GRHPR;(10.5 ± 4.1)years],5/7 with hypercalciuria-related genes[ CASR/ ADCY10/ SLC12A1/ KCNJ1/ SLC34A3;(9.8 ± 3.8)years],and 1/2 with other genes[ ATP6V1B1/ WFS1/ CLCN5;(7.6 ± 2.2)years]. Among 32 mutation sites detected,21 were classified as pathogenic/likely pathogenic and 11 as variants of uncertain significance. Four novel mutations were identified: ATP6V1B1(presenting with renal tubular acidosis,nephrocalcinosis,and hypocitraturia), WFS1(presenting with renal malrotation,hydronephrosis,and stones without metabolic abnormalities), SLC12A1(presenting with Bartter syndrome type 1,chronic renal insufficiency,hypercalciuria,hypocitraturia,alkalosis,and hyperaldosteronism),and SLC3A1(presenting with bilateral renal stones and cystinuria). Conclusions:WES is crucial in identifying the underlying etiology of urolithiasis and can guide targeted treatment. We recommend early WES for patients with an initial stone presentation before age 25,those with nephrocalcinosis,or those with abnormal metabolic workups to facilitate precise diagnosis and preventive care.
10.From historical insights to future frontiers: exploration and innovation in the etiology and prevention of urolithiasis
Kunjie WANG ; Guohua ZENG ; Jianxing LI ; Kewei XU ; Xiaofeng GAO ; Changbao XU ; Bin CHEN ; Xiao YU ; Kefeng XIAO ; Jun LI ; Hao HU ; Hong LI ; Zhangqun YE
Chinese Journal of Urology 2025;46(10):721-724
Urolithiasis represents a prevalent clinical challenge marked by high recurrence rates and morbidity,with existing preventive strategies struggling to effectively curb its epidemic trajectory,thereby posing a significant threat to public health. The etiology of this condition is intricate,involving a complex network of interactions spanning classical supersaturation-crystallization theory,Randall’s plaque theory,and multifactorial elements such as cellular injury,inflammatory responses,metabolic derangements,the gut-kidney axis,immune dysregulation,and genetic predisposition. However,the critical mechanisms initiating stone formation and the early pathophysiological processes remain incompletely elucidated,constituting the core impasse in current preventive strategies. This review systematically synthesizes classical theories and cutting-edge advancements in urolithiasis etiology research,emphasizing the urgent need to integrate emerging technologies,including high-dimensional omics,advanced imaging modalities,and artificial intelligence,to dissect pivotal pathological nodes in early stone formation. Such interdisciplinary efforts are essential to overcome cognitive bottlenecks and ultimately achieve personalized,precision-based prevention strategies.

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