Dent's Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis.

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.

Stent Syndrome: Does the Diameter Matter? Results of a Randomized Trial.

Introduction: Double-J (DJ) ureteral stents are used for multiple purposes in urology. Even though they temporize the subsequent treatment of lithiasis, they may cause different symptoms that impact quality of life (QoL). Purpose: In this randomized trial, we assessed whether the diameter of ureteral stents has an impact on catheter-associated symptoms, and their impact on QoL. Methods: A total of 194 consecutive patients undergoing DJ insertion between December 2018 and December 2022 were prospectively enrolled and divided into three categories: 4.7F (Group 1, n = 71), 6F (Group 2, n = 65), and 7F (Group 3, n = 58). Within 1 week after the DJ placement, patients completed the validated Spanish version of the Ureteral Stent Symptoms Questionnaire. Continuous variables were compared using analysis of variance and Student's t-tests. For categorical data, the chi-square test was used. Results: In the domain of "work" and "additional problems," there were significant differences. In the "Work" domain, Group 1 presented the lower symptoms. In the domain "additional problems," patients in Group 1 were prescribed fewer antibiotics owing to low urinary tract symptoms. In question U4 about urinary incontinence, patients in Groups 2 and 3 developed these symptoms more than patients in Group 1. In the "sexual activity" domain, specifically in question S3 (the patient has ever suffered any type of pain during sexual activity?), patients with 4.7F presented lower scores than patients with larger catheters. Conclusion: DJ-related symptoms affect QoL in most cases. Smaller catheters produced significantly less urinary incontinence, faster work reincorporation, fewer symptoms related to sexual activity, and fewer catheter-related symptoms than 7F catheters. In contrast, Group 3 presented fewer outpatient visits because of symptoms related to the DJ.

Dusting efficacy between the regular setting of holmium laser (Ho:YAG) versus Vapor Tunnel pulse modality for non-complex kidney stones.

The new pulse modality Vapor-Tunnel™ (VT) consists of a very long pulse that uses the minimum peak power, causing the energy to pass through a previously created vapor channel or tunnel. The first part of the pulse creates a vapor channel, whereas the remaining energy is discharged immediately after, passing straight through the previously created tunnel. The aim of this study is to compare the dusting efficacy between Ho:YAG laser with long pulse and Ho:YAG laser with VT for non-complex kidney stones. A retrospective comparative study of 236 patients who underwent retrograde intrarenal surgery using Ho:YAG laser (long pulse vs. VT) was performed. Stone size, stone density, laser settings, laser emission time, and total operative time were recorded. We also assessed the lithotripsy efficacy (J/mm3). The stone-free rate was defined as the absence of stone fragments in a non-contrast abdominal computed tomography 4 weeks after the procedure. A total of 118 patients were included in each group. There was no significant difference in age, gender, and body mass index. Median stone volume (737 mm3 vs. 636 mm3) and stone density (788 HU vs. 656 HU) were higher in the VT group. Total energy used (14.5 J vs. 18.2 J), the laser emission time (20 min vs. 26 min), and the total operative time (79.5 min vs. 95 min) were significantly lower in the VT group. The stone-free rate was comparable between both groups (74.5% for VT and 66.1% for the long-pulse group, p = 0.15). When we evaluated the efficacy of laser lithotripsy, a significantly lower difference was obtained in the VT group (median 12.5 J/mm3 vs. median 23.1 J/mm3). The VT pulse modality was associated with decreased laser time and operative time. Additionally, it increased lithotripsy efficacy compared to Ho:YAG long pulse laser, but with a comparable free-stone rate.