Endourology for Urolithiasis in the Era of Personalized Medicine: Challenges and Opportunities

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Methodology, Drug and Device Discovery".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 480

Special Issue Editors


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Guest Editor
Endourology Unit, Urology Department, University Hospital Complex Santiago de Compostela, Santiago de Compostela, Spain
Interests: endourology; urinary stone management

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Guest Editor
Department of Urology, Fundación Puigvert, Autonomous University of Barcelona, Barcelona, Spain
Interests: endourology; urinary stone treatment
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Special Issue Information

Dear Colleagues,

In the recent decades, endourology for stone treatment has undergone significant advancements, largely due to technological improvements and technical refinements. The use of digital, flexible ureteroscopes with smaller calibers enables medical professionals to maintain the position of the ureter while achieving a high-quality view during ureteroscopy. Nephroscopes of varying calibers allow for the miniaturization of the percutaneous tract in percutaneous nephrolithotomy, adapting to the collecting system anatomy and leading to less morbidity. New lithotripsy devices and lasers allow for quicker and more efficient procedures. Combining anterograde and retrograde approaches (endoscopic combined intrarenal surgery, ECIRS) in the same kidney or simultaneously in different renal units (simultaneous bilateral endoscopic surgery, SBES) leads to more efficient procedures. Aspiration through the endoscopes or sheaths, whether ureteral or percutaneous, is also expected to improve results.

It is important to conduct a thorough study of each patient before performing endourological procedures for urolithiasis. Predictive nomograms, metabolic workups, and genetic analyses can be helpful in determining the success and the potential complications of such procedures. This Special Issue will cover various topics on “personalized endourology for urolithiasis”, which will be beneficial for those who perform endourological procedures in the current era.

Dr. Pérez-Fentes Daniel Adolfo
Dr. Esteban Emiliani
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endourology
  • ureteroscopy
  • percutaenous nephrolithotomy
  • PCNL
  • laser
  • technology
  • genetics
  • predictive models

Published Papers (1 paper)

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Research

9 pages, 1966 KiB  
Article
Dent’s Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis
by Lucía Diéguez, Melissa Pilco, Sofía Butori, Andrés Kanashiro, Josep Balaña, Esteban Emiliani, Bhaskar K. Somani and Oriol Angerri
J. Pers. Med. 2024, 14(6), 623; https://doi.org/10.3390/jpm14060623 - 11 Jun 2024
Viewed by 297
Abstract
Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent’s disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have [...] Read more.
Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent’s disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have mutations in the CLCN5 gene. We performed a review of the literature and evaluated the case series (n = 6) of a single center in Spain, reviewing the natural evolution of kidney stones, clinical implications, laboratory analyses, radiological development, and treatment. All patients had a genetically confirmed diagnosis, with the CLCN5 mutation being the most frequent (66%). All patients had proteinuria and albuminuria, while only two and three presented hypercalciuria and phosphate abnormalities, respectively. Only one patient did not develop lithiasis, with most (60%) requiring extracorporeal shock wave lithotripsy or surgery during follow-up. Most of the patients are under nephrological follow-up, and two have either received a renal transplant or are awaiting one. The management of these patients is similar to that with lithiasis of non-monogenic origin, with the difference that early genetic diagnosis can help avoid unnecessary treatments, genetic counseling can be provided, and some monogenic kidney stones may benefit from targeted treatments. Full article
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