Research progress on renal calculus associate with inborn error of metabolism / 浙江大学学报·医学版

Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary hypophosphatemic rickets with hypercalciuria, adenine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, and hereditary xanthinuria. This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus.

Does displacement of lower pole stones during retrograde intrarenal surgery improves stone-free status?: a systematic review and meta-analysis

Purpose: Kidney stones are one of the most common urological diseases worldwide. The size and location of the stone are the most important factors in determining the most suitable treatment options. The aim of this review was to evaluate the displacement of lower pole stones. Methods: Three studies assessing the efficacy of translocating kidney stones from the lower pole of the kidney to other locations during retrograde intrarenal surgery published in the last 20 years were included. A systematic search was conducted in the PubMed, Embase, Latin American and Caribbean Health Sciences Literature (LILACS), and Web of Science databases using the following search terms: "Lower pole," "Lithotripsy." Meta-analysis was performed using Review Manager version 5.4. Results: Stone-free rates were improved through displacement (odds ratio - OR = -0.15; 95% confidence interval-95%CI -0.24--0.05; p = 0.002; I2 = 21%), but at the cost of increased surgical duration (mean difference = -12.50; 95%CI -24.06--0.95; p = 0.03; I2 = 94%). Although this represents a potentially negative outcome, the improvement in clearance rates justifies the additional investment of time and effort. Conclusions: Displacement of lower pole kidney stones for subsequent lithotripsy brings significant benefits in terms of stone-free rate, with no difference in laser energy usage. However, it results in increased surgical time. Despite these factors, the benefits to patients undergoing the procedure are substantial.

Principais distúrbios metabólicos em adolescentes portadores de nefrolitíase / Main metabolic disorders in adolescents with nephrolithiasis

Introdução: Os cálculos renais compreendem uma das mais comuns patologias do trato urinário e têm apresentado maior incidência em adolescentes nos últimos anos. Objetivos: Identificar os distúrbios metabólicos causadores de cálculo renal mais prevalentes em adolescentes. Métodos: Foram analisados os prontuários de 135 indivíduos portadores de nefrolitíase, com idade entre 12 e 18 anos, de ambos os sexos. Na análise laboratorial, incluiu-se: duas amostras de urina de 24 horas, contendo cálcio, citrato, oxalato e ácido úrico; uma amostra sanguínea, contendo creatinina, paratormônio, ácido úrico e cálcio; pH urinário após 12 horas de restrição hídrica e jejum; urocultura e cistinúria qualitativa. Resultados: 88 pacientes apresentaram hipercaIciúria (65,2%), 42 apresentaram hipocitratúria (31,1%) e 29 hiperuricosúria (21,5%). As demais alterações observadas foram: volume urinário reduzido (14,8%), infecções do trato urinário (9,6%), hiperoxalúria (5,2%), hiperparatireoidismo (1,5%) e acidose tubular renal (1,5%). Os distúrbios metabólicos mais frequentemente observados nos adolescentes portadores de cálculo renal foram hipercalciúria, hipocitratúria e hiperuricosúria

Introduction: Kidney stones are one of the most common pathologies of the urinary tract and have had a higher incidence in adolescents in recent years. Objectives: To identify the most prevalent metabolic disorders that cause kidney stones in adolescents. Methods: The medical records of 135 individuals with nephrolithiasis, aged between 12 and 18 years, of both sexes, were analyzed. The laboratory analysis included: two 24-hour urine samples containing calcium, citrate, oxalate and uric acid; a blood sample, containing creatinine, parathyroid hormone, uric acid, and calcium; urinary pH after 12 hours of fluid restriction and fasting; uroculture and qualitative cystinuria. Results: 88 patients had hyperuricosuria (65.2%), 42 had hypocitraturia (31.1%) and 29 had hyperuricosuria (21.5%). The other changes observed were: reduced urinary volume (14.8%), urinary tract infections (9.6%), hyperoxaluria (5.2%), hyperparathyroidism (1.5%) and renal tubular acidosis (1.5 %). Conclusions: The metabolic disorders most frequently observed in adolescents with kidney stones were hypercalciuria, hypocitraturia and hyperuricosuria.

Comparación de la costo-efectividad de la nefrolitotomía percutánea y de la nefrolitotomía retrógrada flexible con láser de holmio en pacientes con litiasis renal de 20 a 30 mm en Colombia / Comparison of the Cost-effectiveness of Percutaneous Nephrolithotomy and Flexible Retrograde Holmium Laser Nephrolithotomy in Patients with Kidney Stones of 20 to 30 mm in Colombia

Introducción y Objetivo Con el advenimiento de nuevas tecnologías, vienen controversias respecto al espectro de sus aplicaciones. El costo derivado de estas tecnologías juega un papel muy importante en el momento de la toma de decisiones terapéuticas. Es por esto que consideramos relevante estimar la costo-efectividad de la nefrolitotomía percutánea comparada con la nefrolitotomía retrógrada flexible con láser de holmio en pacientes con litiasis renal de 20 mm a 30 mm en Colombia. Materiales y Métodos Por medio de la construcción de un modelo de árbol de decisión usando el programa Treeage (TreeAge Software, LLC, Williamstown, MA, EE.UU.), se realizó una comparación entre la nefrolitotomía percutánea y la nefrolitotomía retrógrada flexible con láser de holmio en pacientes con litiasis renal de 20 mm a 30 mm. La perspectiva fue la del tercer pagador, y se incluyeron los costos directos. Las cifras fueron expresadas en pesos colombianos de 2018. La mejoría clínica, definida como el paciente libre de cálculos, fue la unidad de resultado. Se hizo una extracción de datos de efectividad y seguridad por medio de una revisión sistemática de la literatura. La razón de costo-efectividad incremental fue calculada. Resultados El modelo final indica que la nefrolitotomía percutánea puede ser considerada como la alternativa más costo-efectiva. Los hallazgos fueron sensibles a la probabilidad de mejoría clínica de la nefrolitotomía percutánea. Conclusión Teniendo en cuenta las variables económicas, los supuestos del modelo y desde la perspectiva del tercer pagador, la nefrolitotomía percutánea para el tratamiento de pacientes con cálculos renales de 20 mm a 30 mm es costo-efectiva en nuestro país. Estos hallazgos fueron sensibles a los costos y a la efectividad de los procedimientos quirúrgicos.

Introduction and Objective The advent of new technologies leads to controversies regarding the spectrum of their applications and their cost. The cost of these technologies plays a very important role when making therapeutic decisions. Therefore, we consider it relevant to estimate the cost-effectiveness of percutaneous nephrolithotomy compared with flexible retrograde holmium laser nephrolithotomy in patients with kidney stones of 20 mm to 30 mm in Colombia. Materials and Methods Through the development of a decision tree model using the Treeage (TreeAge Software, LLC, Williamstown, MA, US) software, we compared percutaneous nephrolithotomy with flexible holmium laser retrograde nephrolithotomy in patients with kidney stones of 20 mm to 30 mm. The perspective was that of the third payer, and all direct costs were included. The figures were expressed in terms of 2018 Colombian pesos. Clinical improvement, which was defined as a stone-free patient, was the outcome unit. We extracted data on effectiveness and safety through a systematic review of the literature. The incremental cost-effectiveness ratio was calculated. Results In terms of cost-effectiveness the final model indicates that percutaneous nephrolithotomy may be considered the best alternative. These findings were sensitive to the probability of clinical improvement of the percutaneous nephrolithotomy. Conclusion Taking into account the economic variables, the assumptions of the model, and through the perspective of the third payer, percutaneous nephrolithotomy for the treatment of patients with kidney stones of 20 mm to 30mm is cost-effective in our country. These findings were sensitive to the costs and effectiveness of the surgical procedures.

Associations of body mass index and waist circumference with hospitalization risk of kidney stones in Chinese adults / 中华流行病学杂志

Objective: To evaluate the associations of body mass index (BMI) and waist circumference with hospitalization risk of kidney stones in Chinese adults. Methods: This study used long-term follow-up data from China Kadoorie Biobank. After excluding participants with chronic kidney disease, cancer, and extreme BMI or waist circumference values at baseline, 502 096 participants were included in the present analysis. Cox proportional hazards regression models were used to estimate the associations of BMI and waist circumference with hospitalization risk of kidney stones. Results: During an average follow-up period of (10.7±2.2) years, 12 396 participants were hospitalized for the first time with kidney stones. Using the participants with BMI (kg/m2) of 20.5-22.4 as reference, the multivariable-adjusted HR (95%CI) for those with BMI of <18.5, 18.5-20.4, 22.5-23.9, 24.0-25.9, 26.0-27.9, 28.0-29.9, and ≥30.0 were 0.96 (0.87-1.05), 0.94 (0.88-1.00), 1.11 (1.05-1.17), 1.25 (1.18-1.32), 1.29 (1.21-1.37), 1.39 (1.28-1.50), and 1.54 (1.40-1.71), respectively. For every 1 kg/m2 increase in BMI, the HR of kidney stones hospitalization increased by 4% (HR=1.04, 95%CI: 1.04-1.05). Using the participants with waist circumference (cm) of 75.0-79.9 as reference, the multivariable-adjusted HR (95%CI) for those with waist circumference of <65.0, 65.0-69.9, 70.0-74.9, 80.0-84.9, 85.0-89.9, 90.0-94.9, and ≥95.0 were 0.82 (0.74-0.91), 0.85 (0.80-0.92), 0.95 (0.89-1.00), 1.16 (1.09-1.22), 1.22 (1.15-1.30), 1.28 (1.19-1.38), and 1.46 (1.35-1.58), respectively. For every 5 cm increase in waist circumference, the HR of kidney stones hospitalization increased by 9% (HR=1.09, 95%CI: 1.08-1.10). After mutually adjusting for BMI and waist circumference in the above models, the association between BMI and hospitalization risk of kidney stones disappeared. In contrast, the association between waist circumference and hospitalization risk of kidney stones remained unchanged. Conclusions: BMI and waist circumference were positively associated with hospitalization risk of kidney stones. The increased waist circumference was an independent risk factor for kidney stones among Chinese adults.

Effect of a low-calorie diet on 24-hour urinary parameters of obese adults with idiopathic calcium oxalate kidney stones

ABSTRACT Purpose: to evaluate the effect of low-calorie diet on 24-hour urinary metabolic parameters of obese adults with idiopathic calcium oxalate kidney stones. Materials and Methods: Adult idiopathic calcium oxalate stone formers, with body mass index (BMI) ≥30kg/m2 and a known lithogenic metabolic abnormality, were submitted to low-calorie diet for twelve weeks. After enrolment, anthropometric measures, serum exams, 24-hour urinary metabolic parameters and body impedance were collected one month prior to dietary intervention and at the end of twelve weeks. Correlations between weight loss, waist circumference loss, fat loss and variation in 24-hour urinary lithogenic parameters and calcium oxalate urinary supersaturation (CaOx SS) as per Tiselius equation were analysed. Results: From January 2017 to January 2018, 39 patients were enrolled to participate in this study. Median (range) prescribed diet was 1300 (1100-2100) Kcal/day. Mean age was 51.7±11.0 (29-68) years old and 69.2% were female. 30.8% of the participants shifted from obesity to BMI <30kg/m2 and none to BMI <25kg/m2. A significant correlation was found between baseline 24-hour urinary oxalate and weight (p=0.018) and BMI (p=0.026). No correlation was found between variation of weight, waist circumference, fat mass and 24-h urinary stone risk factors or CaOx SS. Conclusions: Short-term modest weight loss induced by twelve weeks of low-calorie diet is not associated with a decrease of 24-hour urinary lithogenic parameters in idiopathic calcium oxalate stone formers. Calcium oxalate urinary stone formation is probably multifactorial and driven by other factors than weight.

Does previous standard percutaneous nephrolithotomy impair retrograde intrarenal surgery outcomes?

ABSTRACT Purpose: The objective of this study is to evaluate the impact of a previous standard percutaneous nephrolithotomy (PCNL) on the outcomes of retrograde intrarenal surgery (RIRS). Materials and Methods: Outcomes of RIRS performed from January 2017 to January 2020 in adult patients with residual stone fragments ≤20mm after a standard PCNL (Post-PCNL) and symptomatic adult patients with kidney stones ≤20mm (Control) were prospectively studied. Stone-free rate (SFR) was evaluated on a postoperative day 90 non-contrast computed tomography. Surgical complications based on Clavien-Dindo classification during the 90 days of follow-up were recorded. Results: Outcomes of 55 patients and 57 renal units of the post-PCNL group were compared to 92 patients and 115 renal units of the control group. SFR was lower in post-PCNL group than in control (28/57, 49.1% vs. 86/115, 74.8%, p <0.001). Overall complications were more frequent in post-PCNL group (p=0.004). Infundibula strictures were identified and incised with laser in 15/57 (26.3%) renal units of the post-PCNL group. Thirteen renal units had infundibulum stricture at the site of previous percutaneous tract (13/15; 86.7%, p=0.004) and one renal unit had three infundibula strictures. Postoperative complications were not affected by the treatment of infundibula strictures (p=0.198). Conclusions: Previous standard PCNL significantly impairs the outcomes of RIRS. Infundibula strictures can be found in 26.3% of the patients with residual stone fragments after standard PCNL for large burden kidney stones. The main site of infundibulum stricture after standard PCNL is the infundibulum of the entry calyx.

Contemporary considerations in the management and treatment of lower pole stones

ABSTRACT The presence of lower pole stones poses a unique challenge due to the anatomical considerations involved in their management and treatment. Considerable research has been performed to determine the optimal strategy when faced with this highly relevant clinical scenario. Standard options for management include observation, shock wave lithotripsy, retrograde intrarenal surgery, or percutaneous nephrolithotomy. Indeed, each approach confers a distinct set of risks and benefits, which must be placed into the context of patient preference and expected outcomes. The current state of practice reflects a combination of lessons learned from managing calculi not only in the lower pole, but also from other locations within the kidney as well.

Comparing public interest on stone disease between developed and underdeveloped nations: are search patterns on google trends similar?

ABSTRACT Objective: The big data provided by Google Trends may reveal patterns in health information-seeking behavior on population from Brazil and United States (US). Our objective was to explore and compare patterns of stone disease online information-seeking behaviors in both nations. Materials and Methods: To compare Relative Search Volume (RSV) among different urologic key words we chose "US" and "Brazil" as country and "01/01/2009 - 31/12/2018" as time-range. The final selection included 12 key words in each language. We defined "ureteroscopy" as a reference and compared RSV against it for each term. RSV was adjusted by the reference and normalized in a scale from 0-100. Trend presence was evaluated by Mann Kendall Test and magnitude by Sen's Slope (SS) Estimator. Results: We found an upward trend (p <0.01) in most of the researched terms in both countries. Higher temporal trends were seen for "Kidney Stone" (SS=0.36), "Kidney Pain" (SS=0.39) and "Tamsulosin" (SS=0.21) in the US. Technical treatment terms had little search volumes and no increasing trend. "Kidney Stent" and "Double J" had a significant increase in search trend over time and had a relevant search volume overall in 2018. In Brazil, "Calculo Renal", "Colica Renal", "Dor no Rim" and "Pedra no Rim" had a significant increase in RSV (p <0.001). More common and popular terms as "Kidney Stent" and "Tamsulosin" were highly correlated with "Kidney Pain" and "Kidney Stone" in both countries. Conclusions: In the last decade, there was a significant increase in online search for medical information related to stone-disease. Population from both countries tend to look more for generic terms related to symptoms, the disease, medical management and kidney stent, than for technical treatment vocabulary.