Additional file 1: of Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

All supplementary tables for the manuscript. (XLSX 427 kb

What is the quickest scoring system to predict percutaneous nephrolithotomy outcomes? A comparative study among S.T.O.N.E score, Guy's Stone Ccore and CROES nomogram

<div><p>ABSTRACT Objective: To compare the application time and the capacity of the nomograms to predict the success of Guy's Stone Score (GSS), S.T.O.N.E. Nephrolithometry (STONE) and Clinical Research Office of the Endourological Society nephrolithometric nomogram (CROES) of percutaneous nephrolithotomy (PCNL), evaluating the most efficient one for clinical use. Materials and Methods: We studied 48 patients who underwent PCNL by the same surgeon between 2010 and 2011. We calculated GSS, STONE and CROES based on pre-operative non-contrast computed tomography (CT) images and clinical data. A single observer, blinded to the outcomes, reviewed all images and assigned scores. We compared the application time of each nomogram. We used an analysis of variance for repeated measures and multiple comparisons by the Tukey test. We compared the area under the ROC curve (AUC) of the three nomograms two by two to determine the most predictive scoring system. Results: The immediate success rate was 66.7% and complications occurred in 16.7% of cases. The average operative time was 122 minutes. Mean application time was significantly lower for the GSS (27.5 seconds) when compared to 300.6 seconds for STONE and 213.4 seconds for CROES (p<0.001). There was no significant difference among the GSS (AUC=0.653), STONE (AUC=0.563) and CROES (AUC=0.641) in the ability to predict immediate success of PCNL. Conclusions: All three nomograms showed similar ability to predict success of PCNL, however the GSS was the quickest to be applied, what is an important issue for routine clinical use when counseling patients who are candidates to PCNL.</p></div

Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure.People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities. The primary outcomes were cumulative incidence of mortality and kidney failure in individuals with rare kidney diseases, which were calculated and compared with that of unselected patients with chronic kidney disease. Cumulative incidence and Kaplan-Meier survival estimates were calculated for the following outcomes: median age at kidney failure; median age at death; time from start of dialysis to death; and time from diagnosis to estimated glomerular filtration rate (eGFR) thresholds, allowing calculation of time from last eGFR of 75 mL/min per 1·73 m2 or more to first eGFR of less than 30 mL/min per 1·73 m2 (the therapeutic trial window).Between Jan 18, 2010, and July 25, 2022, 27 285 participants were recruited to RaDaR. Median follow-up time from diagnosis was 9·6 years (IQR 5·9-16·7). RaDaR participants had significantly higher 5-year cumulative incidence of kidney failure than 2·81 million UK patients with all-cause chronic kidney disease (28% vs 1%; p Background Methods Findings Interpretation Funding</p