Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the presence of modulatory factors influencing cystinuria severity. In 2016, a second renal cystine transporter, AGT1, encoded by the SLC7A13 gene, was discovered. Although it was discarded as a causative gene for cystinuria, its possible effect as a modulatory gene remains unexplored. Thus, we analyzed its function in mouse models of cystinuria, screened the SLC7A13 gene in 34 patients with different lithiasic phenotypes, and functionally characterized the identified variants. Mice results showed that AGT1/rBAT may have a protective role against cystine lithiasis. In addition, among the four missense variants detected in patients, two exhibited a 25% impairment in AGT1/rBAT transport. However, no correlation between SLC7A13 genotypes and lithiasis phenotypes was observed in patients, probably because these variants were found in heterozygous states. In conclusion, our results, consistent with a previous study, suggest that AGT1/rBAT does not have a relevant effect on cystinuria patients, although an impact in patients carrying homozygous pathogenic variants cannot be discarded.

Reduction of ureteral stent encrustation by modulating the urine pH and inhibiting the crystal film with a new oral composition: a multicenter, placebo controlled, double blind, randomized clinical trial.

BACKGROUND: Encrustation of ureteral double J stents is a common complication that may affect its removal. The aim of the proposed study is to evaluate the efficacy and safety of a new oral composition to prevent double J stent encrustation in indwelling times up to 8 weeks. METHODS: A double-blinded, multicenter, placebo-controlled trial was conducted with 105 patients with indwelling double J stents enrolled across 9 public hospitals in Spain. The patients were randomly assigned (1:1) into intervention (53 patients) or placebo (52 patients) groups for 3 to 8 weeks and both groups self-monitored daily their morning urine pH levels. The primary outcome of analysis was the degree of stent ends encrustation, defined by a 4-point score (0 - none; 3 - global encrustation) using macroscopic and electron microscopy analysis of crystals, after 3 to 8-w indwelling period. Score was exponentially transformed according to calcium levels. Secondary endpoints included urine pH decrease, stent removal, and incidence of adverse events. RESULTS: The intervention group benefits from a lower global encrustation rate of stent ends than placebo group (1% vs 8.2%; p < 0.018). Mean encrustation score was 85.12 (274.5) in the placebo group and 18.91 (102.27) in the intervention group (p < 0.025). Considering the secondary end points, treated patients reported greater urine pH decreases (p = 0.002). No differences in the incidence of adverse events were identified between the groups. CONCLUSIONS: Our data suggest that the use of this new oral composition is beneficial in the context of ureteral double J indwelling by decreasing mean, as well as global encrustation. TRIAL REGISTRATION: This trial was registered at www.clinicaltrials.gov under the name "Combined Use of a Medical Device and a Dietary Complement in Patient Urinary pH Control in Patients With an Implanted Double J Stent" with date 2nd November 2017, code NCT03343275, and URL.

[Strategies and recommendations for urolithiasis treatment and follow-up in COVID-19 pandemia.] / Estrategias y recomendaciones para el tratamiento y seguimiento de la patología litiásica en el periodo de la pandemia COVID-19.

INTRODUCTION: The health crisis caused by COVID-19 pandemic has led to a restructuring of urological activity in order not to delay priority situations. An important part to prioritize within Urologyis Urolithiasis. The objective of this article is to establish strategies and recommendations for the treatment and follow-up in COVID-19 pandemic in phases I, II and III, based on available scientific evidence and the consensus of a group of experts in these pathologies. MATERIAL AND METHODS: The document is based on the evidence available in the literature so far on SARSCoV-2 and the experience of the authors in the management of COVID-19 in their institutions. A narrative review of the literature was conducted, and a modified nominal group technique was used due to the extraordinary restrictions of assembly and mobility during the pandemic. RESULTS: Recommendations are made regarding the epidemiological evaluation of patients before surgery ,the management of positive patients, the epidemiological measures for healthcare personnel, the management of renal colic, the type of anesthesia, endourological surgery, shockwave lithotripsy, hospitalization, clinicalt ests, out-patient service and priorities on the surgical waiting list. CONCLUSION: Treatment of Urolithiasis in COVID-19 pandemic calls for prioritization of patients, maximum efficiency in treatments, adequate protection of healthcare personnel, and the implementation of telemedicine as a measure to reduce patient attendance to the hospital.

INTRODUCCIÓN: La crisis sanitaria provocada por la pandemia COVID-19 ha obligado a reestructurar la actividad urológica para no demorar situaciones que requieran preferencia. Una parte importante para priorizar dentro de la Urología es la patología litiásica. El objetivo de este artículo es establecer estrategias y recomendaciones para el tratamiento y seguimiento de esta en el periodo de pandemia COVID-19 en las fases I II y III, basadas en la evidencia científica publicada y el consenso de un grupo de expertos en esta patología. MATERIAL Y MÉTODOS: El documento se basa en la escasa evidencia en la literatura sobre SARS-CoV-2 y la experiencia de los autores en el manejo de COVID-19 en sus instituciones. Se realizó una revisión narrativa de la literatura y se utilizó una técnica de grupo nominal modificada debido a las restricciones extraordinarias de reunión y movilidad durante la pandemia. RESULTADOS: Se establecen recomendaciones sobre la evaluación epidemiológica de los pacientes antes de la cirugía, el manejo de los pacientes positivos, las medidas epidemiológicas para los profesionales, el manejo del cólico renal, el tipo de anestesia, la cirugía endourológica, la litotricia extracorpórea por ondas de choque, la hospitalización, las pruebas complementarias, la consulta y las prioridades en la lista de espera quirúrgica. CONCLUSIÓN: El tratamiento de la patología litiásica durante la pandemia COVID-19 hace necesaria la priorización de pacientes, la máxima eficiencia en los tratamientos, una protección adecuada del personal sanitario y la implementación de la telemedicina como medida para reducir la asistencia de los pacientes al medio hospitalario.

Estrategias y recomendaciones para el tratamiento y seguimiento de la patología litiásica en el periodo de la pandemia COVID-19 / No disponible

INTRODUCCIÓN: La crisis sanitaria provocada por la pandemia COVID-19 ha obligado a reestructurar la actividad urológica para no demorar situaciones que requieran preferencia. Una parte importante para priorizar dentro de la Urología es la patología litiásica. El objetivo de este artículo es establecer estrategias y recomendaciones para el tratamiento y seguimiento de esta en el periodo de pandemia COVID-19 en las fases I II y III, basadas en la evidencia científica publicada y el consenso de un grupo de expertos en esta patología. MATERIAL Y MÉTODOS: El documento se basa en la escasa evidencia en la literatura sobre SARS-CoV-2 y la experiencia de los autores en el manejo de COVID-19 en sus instituciones. Se realizó una revisión narrativa de la literatura y se utilizó una técnica de grupo nominal modificada debido a las restricciones extraordinarias de reunión y movilidad durante la pandemia. RESULTADOS: Se establecen recomendaciones sobre la evaluación epidemiológica de los pacientes antes de la cirugía, el manejo de los pacientes positivos, las medidas epidemiológicas para los profesionales, el manejo del cólico renal, el tipo de anestesia, la cirugía endourológica, la litotricia extracorpórea por ondas de choque, la hospitalización, las pruebas complementarias, la consulta y las prioridades en la lista de espera quirúrgica. CONCLUSIÓN: El tratamiento de la patología litiásica durante la pandemia COVID-19 hace necesaria la priorización de pacientes, la máxima eficiencia en los tratamientos, una protección adecuada del personal sanitario y la implementación de la telemedicina como medida para reducir la asistencia de los pacientes al medio hospitalario

INTRODUCTION: The health crisis caused by COVID-19 pandemic has led to a restructuring of urological activity in order not to delay priority situations. An important part to prioritize within Urology is Urolithiasis. The objective of this article is to establish strategies and recommendations for the treatment and follow-up in COVID-19 pandemic in phases I, II and III, based on available scientific evidence and the consensus of a group of experts in these pathologies. MATERIAL AND METHODS: The document is based on the evidence available in the literature so far on SARSCoV-2 and the experience of the authors in the management of COVID-19 in their institutions. A narrative review of the literature was conducted, and a modified nominal group technique was used due to the extraordinary restrictions of assembly and mobility during the pandemic. RESULTS: Recommendations are made regarding the epidemiological evaluation of patients before surgery, the management of positive patients, the epidemiological measures for healthcare personnel, the management of renal colic, the type of anesthesia, endourological surgery, shockwave lithotripsy, hospitalization, clinical tests, out-patient service and priorities on the surgical waiting list. CONCLUSION: Treatment of Urolithiasis in COVID-19 pandemic calls for prioritization of patients, maximum efficiency in treatments, adequate protection of healthcare personnel, and the implementation of telemedicine as a measure to reduce patient attendance to the hospital