OBJECTIVE: We aimed to investigate controversial pediatric urolithiasis issues systematically, integrating expert consensus and comprehensive guidelines reviews.
METHODS: Two semi-structured online focus group meetings were conducted to discuss the study\'s need and content, review current literature, and prepare the initial survey. Data were collected through surveys and focus group discussions. Existing guidelines were reviewed, and a second survey was conducted using the Delphi method to validate findings and facilitate consensus. The primary outcome measures investigated controversial issues, integrating expert consensus and guideline reviews.
RESULTS: Experts from 15 countries participated, including 20 with 16+ years of experience, 2 with 11-15 years, and 4 with 6-10 years. The initial survey identified nine main themes, emphasizing the need for standardized diagnostic and treatment protocols and tailored treatments. Inter-rater reliability was high, with controversies in treatment approaches (score 4.6, 92% agreement), follow-up protocols (score 4.8, 100% agreement), and diagnostic criteria (score 4.6, 92% agreement). The second survey underscored the critical need for consensus on identification, diagnostic criteria (score 4.6, 92% agreement), and standardized follow-up protocols (score 4.8, 100% agreement).
CONCLUSIONS: The importance of personalized treatment in pediatric urolithiasis is clear. Prioritizing low-radiation diagnostic tools, effectively managing residual stone fragments, and standardized follow-up protocols are crucial for improving patient outcomes. Integrating new technologies while ensuring safety and reliability is also essential. Harmonizing guidelines across regions can provide consistent and effective management. Future efforts should focus on collaborative research, specialized training, and the integration of new technologies in treatment protocols.

Introduction Urolithiasis, a common urological disorder affecting the global population, demonstrates geographical diversity due to factors such as water quality, climate variations, health conditions, and dietary habits. This study, conducted in Northern Sri Lanka, examines urinary stone compositions and assesses the prevalence of metabolic disorders among urolithiasis patients. Methods This prospective cross-sectional study, conducted at Jaffna Teaching Hospital, Jaffna, Sri Lanka, from July 2022 to June 2023, focused on surgically treated urolithiasis patients. Institutional ethical clearance was obtained. Patient details and investigational findings were collected through questionnaires and data extraction forms. Stone analysis utilized Fourier transform infrared spectroscopy, and a detailed metabolic evaluation of a 24-hour urine collection sample was carried out. Results This study followed 153 surgically treated urolithiasis patients, primarily male (64.3%), with a mean age of 48.64. Ureteric colic (48.4%) was common, with kidney stones (45.8%) prevalent; 57.52% had recurrent stones. Diabetes mellitus (DM; 23.5%) was the top comorbidity. Calcium oxalate monohydrate (COM) stones (78.4%) were the most frequent, followed by uric acid (12.4%). COM predominated in the 40-59 age group. There was no significant gender-stone type association. A total of 86.9% had metabolic abnormalities, notably hypocitraturia (60.1%). Moreover, 23% had both hypocitraturia and hypomagnesuria. Some metabolic disorders showed gender differences, with a marginal age-metabolic disorder association (p < 0.061). Urine oxalate levels were normal, with higher variability in males. Conclusion Middle-aged males with urolithiasis commonly presented with ureteric colic and predominantly had COM stones. Recurrent stones were common, often accompanied by metabolic abnormalities such as hypocitraturia and hypomagnesuria, with DM as the primary comorbidity.

OBJECTIVE: The aim of this review was to define patients who are at high risk of recurrence of urolithiasis, to delineate diagnostic and therapeutic algorithms for each type of stone, and to clarify general guidelines and recommendations for prevention of recurrence.
METHODS: A professional research librarian carried out literature searches for all sections of the urolithiasis guidelines, covering the timeframe between 1976 and June 2023.
UNASSIGNED: For every patient with urolithiasis, an attempt should be made to analyse the stone. Patients should be given general instructions on how to prevent recurrence, including adequate fluid and calcium intake, and low consumption of sodium and protein. Identifying and correcting the causative factors is a cornerstone in preventing the recurrence of urolithiasis. Diagnostic and therapeutic algorithms by stone composition are available. Every patient should undergo baseline metabolic screening, while patients with calcium stones, who are at high risk of relapse and complications, should undergo extensive metabolic screening with two 24-h urine collections and should receive targeted therapy. Patients with uric acid, infection, or cystine stones are at high risk of relapse. All patients at high risk of recurrence should be closely monitored, especially those not complying with therapy in the long term.
CONCLUSIONS: Metabolic stone evaluation and patient follow-up are highly recommended to prevent urolithiasis recurrence.
RESULTS: We reviewed the evidence for proper evaluation of patients with urinary and stones and the treatment options for preventing stone recurrence. It is essential to determine the type of stone and to carry out specific blood and urine tests for planning the best treatment course for each patient.

UNASSIGNED: Routine metabolic assessments for methylmalonic acidemia (MMA), propionic acidemia (PA), and homocysteinemia involve detecting metabolites in dried blood spots (DBS) and analyzing specific biomarkers in serum and urine. This study aimed to establish a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the simultaneous detection of three specific biomarkers (methylmalonic acid, methylcitric acid, and homocysteine) in DBS, as well as to appraise the applicability of these three DBS metabolites in monitoring patients with MMA, PA, and homocysteinemia during follow-up.
UNASSIGNED: A total of 140 healthy controls and 228 participants were enrolled, including 205 patients with MMA, 17 patients with PA, and 6 patients with homocysteinemia. Clinical data and DBS samples were collected during follow-up visits.
UNASSIGNED: The reference ranges (25th-95th percentile) for DBS methylmalonic acid, methylcitric acid, and homocysteine were estimated as 0.04-1.02 μmol/L, 0.02-0.27 μmol/L and 1.05-8.22 μmol/L, respectively. Following treatment, some patients achieved normal metabolite concentrations, but the majority still exhibited characteristic biochemical patterns. The concentrations of methylmalonic acid, methylcitric acid, and homocysteine in DBS showed positive correlations with urine methylmalonic acid (r = 0.849, p < 0.001), urine methylcitric acid (r = 0.693, p < 0.001), and serum homocysteine (r = 0.721, p < 0.001) concentrations, respectively. Additionally, higher levels of DBS methylmalonic acid and methylcitric acid may be associated with increased cumulative complication scores.
UNASSIGNED: The LC-MS/MS method established in this study reliably detects methylmalonic acid, methylcitric acid, and homocysteine in DBS. These three DBS metabolites can be valuable for monitoring patients with MMA, PA, and homocysteinemia during follow-up. Further investigation is required to determine the significance of these DBS biomarkers in assessing disease burden over time.

OBJECTIVE: In this study, we aimed to identify the compliance rates of calcium-oxalate stone patients for metabolic evaluation, diet and medical treatment and also determine the factors that are associated with poor compliance rates.
METHODS: This study was conducted by the EULIS eCORE working group prospectively. In the initial visit, demographic and stone-related characteristics were recorded. Patients were suggested metabolic evaluation, dietary advices and medical treatment. Follow-up visit was performed after 3 months and compliance rates were recorded. Logistic regression analysis was performed to determine factors associated with poor compliance to metabolic evaluation, diet and medical treatment.
RESULTS: Data of 346 patients from nine centers were analyzed. Compliance rates were 71.7%, 65.3%, and 63.7% for metabolic evaluation, diet, and medical treatment, respectively. In multivariate analysis, level of education (p = 0.003), history of emergency department visit (p = 0.04), number of stone surgeries (p = 0.03), patient care in dedicated stone clinic (p = 0.03), and history of shock wave lithotripsy (p = 0.005) were detected as independent predictors of compliance to metabolic analysis. Level of education (p < 0.001) and history of emergency department visit (p = 0.01) were detected as independent predictors of patient compliance to diet. Number of stone episodes (p = 0.03), family history of stones (p = 0.02), and polypharmacy (p < 0.001) were detected as independent predictors of patient compliance to medical treatment.
CONCLUSIONS: Patient compliance to metabolic evaluation, diet, and medical therapy is important for successful management of urolithiasis. Dietary advices and medications should be personalized by taking in to account the factors associated with poor compliance.

OBJECTIVE: To assess the routine serum and 24-hour urine tests proficiency in diagnosing the baseline metabolic abnormality of kidney stone formers.
METHODS: This study analyzes the routine serum and 24-hour urine tests proficiency in diagnosing the baseline metabolic abnormality of kidney stone formers. The sensitivity and specificity, false positive, and negative results of the tests are extracted from diagnostic kits used in the laboratories of the target community. To accurately infer the results, a simulation based on 1000 people was used through 22 standard laboratory tests (Additional File 2), including calcium, oxalate, phosphate, uric acid, sulfate, potassium, sodium, citrate, and magnesium in 24-hour urine; and calcium, creatinine, Vit D, uric acid, and intact parathyroid hormone (PTH) in serum. The incremental cost-effectiveness ratio (ICER) was calculated and compared for each diagnostic test versus other diagnostic tests according to the incremental cost required for correct diagnoses of stone causes.
RESULTS: Urinary uric acid, citrate, and serum potassium constitute the cost-effectiveness boundary curve in this study. This means that other diagnostic tests are not cost-effective compared to these three tests in terms of indexing at least one item of cost and effectiveness. The ICER index for each correct diagnosis with the urinary uric acid test was $ 1.25 per diagnosis, the most cost-effective test compared to serum potassium and urinary citrate.
CONCLUSIONS: The simplified blood and 24-hour urine metabolic evaluation, including urinary uric acid, citrate, and serum potassium, constitute the cost-effectiveness boundary curve. The most cost-effective test was urinary uric acid measurement.

OBJECTIVE: To evaluate the impact of stone free status on the outcomes of metabolic evaluation in recurrent stone formers after ureteroscopic stone removal.
METHODS: A total of 78 patients undergoing retrograde intrarenal surgery (RIRS) for renal stones were included and cases were divided into two groups after 4 weeks based on the NCCT findings. While cases in the Group 1 (n = 54) was completely stone free, cases in Group 2 (n = 24) had residual fragments in the kidney. A full 24-h urine analysis for relevant stone forming risk factors has been performed after 4 weeks following the fURS procedures in all patients of both groups. Outcomes of metabolic evaluation (24-h urine and serum) have been comparatively evaluated in both groups.
RESULTS: Evaluation of the preoperative serum and urine stone forming risk factors revelaed no statistical difference in both groups. Comparative evaluation of the 24-h urinary stone forming risk factors also revealed no statistically significant difference between preoperative and postoperative findings in cases of Group 2 with residual stones. Last but not least, no significant difference was observed between the mean preoperative and postoperative serum variables between two groups.
CONCLUSIONS: Our results show that in the light of the similar metabolic evaluation outcomes obtained in cases with and without residual fragments, \'stone free status\' may not be an essential factor to perform a detailed metabolic evaluation (24-h urine analysis and serum parameters) after endourological stone removal procedures.

The incidence of urolithiasis (UL) in children has been increasing. Although the pathogenesis of pediatric UL is controversial and remains unclear, multiple monogenic causes of UL have been identified. We aim to investigate the prevalence of inherited UL causes and explore the genotype-phenotype correlation in a Chinese pediatric group. In this study, we analyzed the DNA of 82 pediatric UL patients using exome sequencing (ES). The data of metabolic evaluation and genomic sequencing were subsequently analyzed together. We detected 54 genetic mutations in 12 of 30 UL-related genes. A total of 15 detected variants were described as pathogenic mutations, and 12 mutations were considered likely pathogenic. Molecular diagnoses were made in 21 patients with pathogenic or likely pathogenic variants. Six novel mutations that were not previously reported were identified in this cohort. Calcium oxalate stones were detected in 88.9% cases (8/9) with hyperoxaluria-related mutations, while 80% of individuals (4/5) with cystinuria-causing defects were diagnosed with cystine stones. Our study highlights the significant genetic abnormalities in pediatric UL and demonstrates the diagnostic power of ES for screening patients with UL.

The aim of this study was to construct the fourth in a series of guidelines on the treatment of urolithiasis by the International Alliance of Urolithiasis (IAU) that by providing a clinical framework for the metabolic evaluation, prevention, and follow-up of patients with urolithiasis based on the best available published literature. All recommendations were summarized following a systematic review and assessment of the literature in the PubMed database from January 1976 to June 2022. Each generated recommendation was graded using a modified GRADE methodology. Guideline recommendations were developed that addressed the following topics: initial evaluation, metabolic testing, dietary measures, medical management, and follow-up of recurrent stone formers. It was emphasized by the Panel that prevention of new stone formation is as important as the surgical removal of the stones. Although general preventive measures may be effective in reducing stone recurrence rates in some patients, specific medical and dietary management should be well considered and eventually applied in an individualized manner based on the outcomes of metabolic work-up, stone analysis and some certain patient related factors. A detailed follow-up of each case is essential depending on the metabolic activity of each individual patient.

Although stone disease is an important health problem with high incidence and recurrence rates, it is a preventable disease. Attitudes and practices of urologists regarding the prevention of recurrence continue to be a subject of debate. In this context, an online survey study was conducted involving 305 urologists from 57 different countries. The first 7 questions collected demographic data about the urologists and the remaining 23 questions were about the recurrence and metabolic evaluation, medical treatment, and follow-up of urinary stone disease. Most urologists (85.2%) thought that metabolic examination was important. Approximately one-third of the participants (34.1%) performed 24-hour urine analysis and stone analysis was ordered by 87.5% of the urologists. Metabolic analysis was performed for all patients by 14.7% of the participants. For pediatric patients this rate was 68.5%, and for adults with recurrence the rate was 81.6%. Reasons cited by the urologists for not performing metabolic analysis included not feeling confident doing so (18.3%), having limited facilities in their hospital (26.5%), having an excessive daily workload (31.8%), patient-related factors (27.5%), and referring patients to other departments for metabolic evaluation (20.9%). Although majority of the responding urologists do consider the metabolic analysis as vital important, they seemed not to be willing to perform these tests with the same degree of enthusiasm in their daily practice. Our results show that urologists need support in performing and interpreting 24-hour urine analysis, improving their knowledge levels, and communicating with patients. Urology residency training should focus more on the prevention of urinary stone recurrence in addition to the surgical training.