Search Results (30)

Background and Clinical Significance: Wolf–Hirschhorn syndrome (WHS, OMIM #194190) is caused by deletion of the distal short arm of chromosome 4. It is characterized by intrauterine growth restriction (IUGR), developmental delay, epilepsy, distinctive facial features, and urinary tract anomalies, particularly renal hypoplasia. However, the histological profile of renal involvement in WHS is rarely documented. Case presentation: We report a case of fetal WHS with renal hypoplasia and histological evidence of oligomeganephronia (OMN). At 21 weeks’ gestation, a prenatal ultrasound revealed oligo/anhydramnios and IUGR. Genetic testing (karyotype and CGH-array) confirmed a de novo 17.92 Mb terminal deletion from 4p16.3 to 4p15.31. The pregnancy was legally terminated at 23 weeks. The autopsy showed characteristic WHS dysmorphisms, growth restriction, and markedly small kidneys. Histology revealed OMN with a thinned renal cortex with reduced glomeruli, mainly hypoplastic, some of which were hypertrophic, and dilated proximal tubules. Scattered medullary tubules were present within the tubulointerstitial compartment, alongside thickened tubular basement membranes highlighted by Collagen IV staining. Conclusions: This case suggests that OMN may be a histological hallmark of renal hypoplasia in WHS, especially in larger 4p deletions. Recognizing this pattern may help with prenatal prognosis and clinical management. Further studies are needed to confirm this association. Full article

Background and Clinical Significance: Retained intrarenal foreign bodies are rare adverse events after endourological stone surgery. Guidewire fracture or detachment is uncommon and can trigger infection, obstruction, or encrustation if unrecognized. We report antegrade percutaneous snare retrieval of a retained hydrophilic guidewire tip and provide a concise literature review (seven PubMed-indexed intrarenal cases identified by a structured search) to inform diagnosis, management, and prevention. We also clarify the clinical rationale for an antegrade versus retrograde approach and the sequencing of decompression, definitive stone management, and stenting in the context of sepsis. Case Presentation: A 75-year-old woman with diabetes presented with obstructive left pyelonephritis from ureteral and renal calculi. After urgent percutaneous nephrostomy, she underwent semirigid and flexible ureteroscopic lithotripsy with double-J stenting; the nephrostomy remained. During routine tube removal, the stent was inadvertently extracted. Seven days later she re-presented with fever and flank pain. KUB and non-contrast CT showed a linear 4 cm radiopaque foreign body in the left renal pelvis with dilatation. Under local anesthesia and fluoroscopy, a percutaneous tract was used to deploy a 35 mm gooseneck snare and retrieve the distal tip of a hydrophilic guidewire (Sensor/ZIP-type). Inflammatory markers were normalized; the nephrostomy was removed on day 5; six-week imaging confirmed complete clearance without complications. Conclusions: Retained guidewire fragments should be suspected in postoperative patients with unexplained urinary symptoms or infection. Cross-sectional imaging confirms the diagnosis, while minimally invasive extraction—preferably an antegrade percutaneous approach for rigid or coiled fragments—achieves prompt resolution. This case adds to the seven prior PubMed-indexed intrarenal reports identified in our review, bringing the total to eight, underscoring prevention through pre-/post-use instrument checks, immediate fluoroscopy when withdrawal resistance occurs, and structured device accounting to avoid “never events.” Full article

Background and Objective: Benign prostatic hyperplasia (BPH) and urethral stricture (US) are common causes of lower urinary tract symptoms in ageing men, often requiring repeated interventions. Conventional treatments of US, such as urethrotomy and mechanical dilation, have high recurrence rates. The Optilume drug-coated balloon catheter system, which combines mechanical dilation with paclitaxel delivery, has emerged as a minimally invasive alternative. This systematic review assesses its efficacy and safety in the management of BPH and US. Methods: A systematic search of PubMed was conducted for studies published between August 2020 and October 2023. Eligible studies included randomised controlled trials (RCTs), cohort studies, and case reports evaluating Optilume’s therapeutic effects. Key outcomes analysed included symptom relief, urinary flow improvement, recurrence rates, and adverse events. Results: Seven studies met the inclusion criteria, including five on US and two on BPH. The ROBUST trial series demonstrated sustained improvements in urinary flow rates and symptom scores in US patients over follow-up periods of up to four years. The EVEREST-1 and PINNACLE trials reported significant symptom relief and preserved sexual function in BPH patients, with a favourable safety profile and minimal complications. Conclusions: Optilume appears to be a promising alternative to conventional endoscopic treatments for US and BPH, offering durable symptom relief with a low complication rate. Further long-term studies are required to confirm its efficacy and cost-effectiveness in routine clinical practice. Full article

The Atlantic puffin (Fratercula arctica) is a seabird species characterized by great diving capabilities and transoceanic migratory behavior. These movements contribute to the dispersion of the species during migration, and episodes of mortality associated with migration may be a normal event in the dynamic of the Atlantic puffin populations. This study aimed to describe the anatomopathological findings of an unusual mortality event of Atlantic puffins observed during the non-breeding period along the coast of the Canary Islands. The most consistent gross finding during necropsy was generalized muscle atrophy and fat depletion. The main histological findings were centered in the urinary tract, with dilation and inflammation of the primary ureter branch and medullary cones, and intraluminal trematodes identified as Renicola sloanei based on morphology and molecular analysis. Influenza virus infection was ruled out. The postmortem investigations performed in this mortality event of Atlantic puffins indicate that the animals were severely emaciated and suffered from nephropathy. The etiopathological investigation performed in relation to this mortality event of Atlantic puffins indicates starvation associated with bad weather conditions during migratory movement as the most likely cause of the unusual mortality event. Full article

Urinary actinomycosis is a rare condition, often mimicking a urinary tract tumor. Due to its low prevalence, it can be challenging to diagnose and may be mistaken for malignancies. A 33-year-old female patient with a history of type 2 Diabetes Mellitus and recurrent urinary tract infections presented to the emergency room with right renal fossa pain radiating to the right hypochondrium, fever with chills, nausea, and vomiting. Physical examination revealed a positive Giordano sign and tenderness at the ipsilateral middle and upper ureteral points. A contrast-enhanced CT scan showed a mass infiltrating the distal third of the right ureter, causing retrograde dilatation and hydronephrosis. Additionally, a liver injury with both liquid and solid components was observed. Therefore, given the suspicion of a urothelial tumor, a diagnostic cystoscopy and ureteroscopy were performed. Using interventional radiology, an abscessed liver lesion was drained, yielding purulent fluid. The histopathological examination revealed no evidence of malignancy. However, due to the strong suspicion of upper urinary tract urothelial carcinoma, a right radical nephroureterectomy with bladder cuff excision and retroperitoneal lymphadenectomy was performed. Histopathological examination ultimately confirmed urinary actinomycosis. Consequently, antibiotic therapy with oral amoxicillin 2 g every 12 h was initiated, leading to a good clinical response. Despite its low incidence, urinary actinomycosis should be considered as a differential diagnosis in cases suspected of urothelial tumors in the upper urinary tract. Increased awareness of this rare condition may help prevent unnecessary surgical interventions. Full article

Background and Objectives: We aimed to assess the outcomes of upfront Optilume drug-coated balloon (DCB) dilation in patients after failed treatment for complex recurrent urethral stricture disease. All patients presented with acute urinary retention and were treated with DCB dilation regardless of stricture site and length. Materials and Methods: We retrospectively evaluated patients with acute urinary retention and known complex recurrent urethral strictures. Patients presented at the urology emergency room of our tertiary centre with an inability to void or a post-void residual (PVR) volume exceeding 400 mL between August 2021 and February 2024. Urethrography and/or endoscopic imaging confirmed the diagnosis. Patients with urinary tract infection/sepsis and those with neurological disease were excluded. Urethral dilation to 20 Fr was performed, followed by DCB dilation (30 Fr, 10 bar, 10 min). The primary endpoints were anatomical success (≥14 Fr by cystoscopy/calibration) at 12 months and freedom from repeat interventions. Results: Thirty-one consecutive male patients were evaluated, with twenty-six patients followed for ≥12 months (mean age 65 ± 16.8 years). The stricture sites included seven bulbopenile, seven bulbomembranous, seven anastomotic, three bladder neck, one penile, and one panurethral stricture. The median number of prior urethral/surgical interventions was 2 [IQR: 1–3] (range: 1–31). The median stricture length was 3 [IQR: 2–4] cm (range: 1–8). At 12 months, 65.4% (17/26) of subjects voided satisfactorily and were free of recurrence and reoperation. Conclusions: Timely DCB dilation may offer a viable treatment option for patients with complex recurrent urethral strictures and urinary retention, particularly those who are unable or unwilling to undergo surgical reconstruction and prefer to avoid indwelling catheters. Full article

Background and Objectives: Congenital urological malformations are among the most frequent causes of pediatric chronic kidney disease. Endoscopic balloon dilation and ureteral stenting can be considered less invasive options compared to conventional surgery for primary obstructive megaureter (POM). Nevertheless, the long-term results and side effects of these methods have not yet been well documented. The purpose of this study is to analyze the effectiveness and safety of the endoscopic treatment of POM in children, with the aim of assisting clinical decision making and improving treatment plans. Materials and Methods: A retrospective longitudinal study was performed at the Pediatric Surgery Department of the “M.S. Curie” Emergency Clinical Hospital for Children in Bucharest between October 2020 and September 2024. Eleven endoscopic interventions were performed in five pediatric patients (four boys and one girl) who had six affected ureters, with a median age of 22 months. The inclusion criteria were retrovesical ureter dilation > 7 mm and no prior surgeries of the ureterovesical junction. Cases with secondary megaureters were excluded from the study. The procedures comprised HPEBD and temporary double-J (DJ) stent placement, with systematic postoperative monitoring. Success was defined as improvements in symptoms, a decrease in hydronephrosis, and the preservation of renal function. Results: A final success rate of 83.3% was achieved with endoscopic treatment. Complications were noted in 73% of cases: Clavien–Dindo Grade I (30%); Clavien–Dindo Grade II (20%); Clavien–Dindo Grade IIIb (50%). The documented complications consisted of balloon rupture, stent migration, restenosis, and febrile urinary tract infections (UTIs). Nonetheless, no major complications were observed. The postoperative monitoring showed that renal function was stable and that hydronephrosis had improved gradually. Conclusions: Endoscopic procedures offer a promising, minimally invasive treatment for POM in children with a good success rate. However, the high complication risk necessitates careful patient selection, post-surgery monitoring, and clear guidelines. Full article

Background: Posterior urethral valves (PUVs) represent the most common cause of male congenital lower urinary tract obstruction, often responsible for renal dysplasia and chronic renal failure. Despite recent improvements in patients’ outcomes thanks to prenatal ultrasound early diagnosis, PUVs can still impact sexual function and fertility. This study aims to review the available evidence on fertility in PUV patients, examining paternity rates and semen parameters. Methods: A review was conducted of the PubMed, Cochrane, Scopus, and Embase databases. Studies focusing on fertility and paternity outcomes in PUV patients were selected, including case reports, case series, and retrospective and prospective studies. Results: A total of 15 studies met the inclusion criteria. The review revealed that PUV patients often exhibit compromised semen parameters, including low sperm count, reduced motility, and abnormal morphology, as well as alterations in seminal plasma. PUV diagnoses are common in adults exhibiting infertility and ejaculation disorders, suggesting PUVs cannot be considered only a pediatric disease. Paternity rates among PUV patients were rarely reported in extenso, hampering the correct assessment of the overall medium paternity rate and its comparison with that of healthy individuals. Lastly, seminal parameters were assessed in a minimal cohort of patients, therefore, they could not be considered representative. Conclusions: Fertility and seminal parameters in PUV patients represent an under-investigated area. PUVs can variably and non-univocally affect fatherhood, and they may be associated with compromised semen quality. Early intervention and long-term follow-up are essential to address potential fertility issues. Future research should focus on developing targeted strategies to preserve and enhance fertility in this patient population. Full article

Urinary tract dilations (UTDs) are the most frequent prenatal renal anomaly. The spectrum of etiologies causing UTD ranges from mild spontaneously resolving obstruction to severe upper and lower urinary tract obstruction or reflux. The early recognition and management of these anomalies allows for improved renal endowment prenatally and ultimately better outcome for the child. The role of the general obstetrician and pediatrician is to recognize potential prenatal and postnatal cases addressed to their practice and to refer patients to specialized pediatric nephrology and urology centers with a sense of the urgency of such a referral. The aim of this paper is to offer clinical recommendations to clinicians regarding the management of neonates and children born with prenatally detected UTD, based on a consensus between Swiss pediatric nephrology centers. The aim is to give suggestions and recommendations based on the currently available literature regarding classifications and definitions of prenatal and postnatal UTD, etiologies, prenatal and postnatal renal function evaluation, investigations, antibiotic prophylaxis, and the need for referral to a pediatric nephrologist and/or urologist. The overarching goal of a systematic approach to UTD is to ultimately optimize kidney health during childhood and improve long-term renal function prognosis. Full article

Background/Objectives: The anteroposterior renal pelvis diameter (APRPD) is used to assess the grade of urinary tract dilatation (UTD). There is no univocal method stratifying the risk of complications related to postnatal UTD. This study aims to identify APRPD cut-offs at birth to determine outcome stratification and second-level exams. Methods: The records of a cohort of newborns with unilateral or bilateral UTD confirmed or detected by ultrasound after birth between 2010 and 2020 were analyzed. These children underwent further examinations at 3, 6, 12, and 24 months of age. Results: We managed 500 children with postnatal UTD, with a median APRPD at 0–2 months of age of 7.7 mm [IQR 6.0–10.0]. As for UTD resolution, 279 (55.8%) patients had a complete resolution at the age of 6 months; an additional 55, for a total of 344 (68.8%), at 9–12 months; and 19, for a total of 353 (70.6%), at 24 months. An APRPD value ≤ 8.5 mm showed a sensitivity of 80.4% (95% CI [76.0–84.4]) and a specificity of 100.0% (95% CI [76.8–100.0]) in identifying candidates for spontaneous resolution within 24 months of life. An APRPD value ≤ 8.5 mm was also an independent prognostic factor of resolution at the age of 24 months (p = 0.000). Conclusions: Isolated hydronephrosis is the most frequent urinary tract abnormality detected in pregnancy. A well-structured prenatal and postnatal management plan is indeed necessary. According to our analyses, 8.5 mm can be used as a cut-off to reassure parents and clinicians of the benignity of the postnatal dilatation. Full article

Introduction: In endometriosis, urinary tract involvement occurs in 1–5.5% of cases, where the ureter is affected in 9–23%. Unfortunately, endometriosis may remain asymptomatic even with significant anatomical progression. A delay in the diagnosis and treatment of ureteral endometriosis may result in hydronephrotic kidney damage and functional impairment. Methods: We present a case of a 36-year-old woman with a left ureteral stricture caused by deep infiltrating endometriosis accompanied by severe kidney-induced arterial hypertension. In March 2022, the patient underwent both laparoscopic excision/evaporation of deep infiltrating endometriosis from the left ovarian fossa and left ureterolysis, followed by an ureterorenoscopic dilatation of the left ureter via the placement of an Allium self-expandable stent. Results: This stent was successfully removed 18 months later. A computed tomography check-up confirmed normal ureteral patency with no signs of endometriosis. Elevated blood pressure also resolved. Conclusions: Deep infiltrating endometriosis can lead to asymptomatic yet serious complications. A successful treatment of ureteral endometriosis may require multidisciplinary management, including a simultaneous laparoscopic and ureterorenoscopic approach. Ureteral stent placement is a minimally invasive state-of-the-art solution for ureteral stricture(s) and should be considered the first choice in women of reproductive age suffering from ureteral deep infiltrating endometriosis. Full article

Background and Objectives: Robot-assisted extravesical ureteral reimplantation (REVUR) has been described as valuable alternative to open reimplantation in the pediatric population. This study aimed to report the outcome of REVUR in children with complex obstructed megaureter (COM) needing ureteral dismembering and/or tapering. Materials and Methods: The records of patients with COM, who received REVUR with ureteral dismembering and/or tapering over the last 3 years (2021–2024), were retrospectively reviewed. The inclusion criteria for COM included previous surgery, paraureteral diverticula, or ectopic megaureter. Results: A total of 16 patients (15 boys), with a median age of 7.8 years (range 2–16), were treated over the study period. COM was associated with paraureteral diverticula (n = 6), previous failed endoscopic balloon dilation (n = 4), ectopic megaureter (n = 2), and previous bulking agent endoscopic injection causing iatrogenic ureteral obstruction (n = 4). Presentation symptoms included febrile urinary tract infections (n = 8), flank pain (n = 4), hematuria (n = 2), and pseudo-incontinence (n = 2). All surgical procedures were accomplished robotically without conversions or intra-operative complications. Ureteral tapering was performed in 7/16 (43.7%). The median operative time (including robot docking) was 220 min (range 155–290). The median length of stay was 3.8 days (range 3–7). The indwelling double J stent was removed 4–6 weeks postoperatively. Clavien 2 grade complications occurred postoperatively in 2/16 (12.5%). At median follow-up of 34.5 months, all patients were asymptomatic and showed improved hydroureteronephrosis on ultrasound and improved drainage on diuretic renogram. Conclusions: This study demonstrates that robot-assisted extravesical ureteral reimplantation is a safe and effective treatment for primary obstructive megaureter and other complex ureteral anomalies in our patient cohort. The procedure showed low complication rates, high success rates, and favorable long-term outcomes, supporting the feasibility and effectiveness of robotic surgery for these conditions. Full article

Hydronephrosis, the dilation of kidneys due to abnormal urine retention, occurs spontaneously in certain inbred mouse strains. In humans, its occurrence is often attributed to acquired urinary tract obstructions in adults, whereas in children, it can be congenital. However, the genetic factors underlying hydronephrosis pathogenesis remain unclear. We investigated the cause of hydronephrosis by analyzing tetraspanin 7 (Tspan7) gene-modified mice, which had shown a high incidence of hydronephrosis-like symptoms. We found that these mice were characterized by low liver weights relative to kidney weights and elevated blood ammonia levels, suggesting liver involvement in hydronephrosis. Gene expression analysis of the liver suggested that dysfunction of ornithine transcarbamylase (OTC), encoded by the X chromosome gene Otc and involved in the urea cycle, may contribute as a congenital factor in hydronephrosis. This OTC dysfunction may be caused by genomic mutations in X chromosome genes contiguous to Otc, such as Tspan7, or via the genomic manipulations used to generate transgenic mice, including the introduction of Cre recombinase DNA cassettes and cleavage of loxP by Cre recombinase. Therefore, caution should be exercised in interpreting the hydronephrosis phenotype observed in transgenic mice as solely a physiological function of the target gene. Full article

Background/Objectives: Hereditary hemorrhagic telangiectasia (HHT) is a rare disorder characterized by dilated blood vessels. Different immunological changes have been described in these patients. In this study, the predisposition of patients with HHT to infections and allergic diseases was assessed. Methods: Patients with HHT completed an online survey in English or German. Their data were compared to non-affected partners or friends. Results: A total of 430 out of 588 respondents with HHT answered our questions about infections and allergies. Patients with HHT suffered significantly more often from various types of allergies than their partners, especially type I allergies (n = 226/276, 82%), and had a higher risk for sinusitis, urinary tract infections, pulmonary infections, and abscesses. A total of 38% of the patients took antibiotics prior to dental or surgical procedures (n = 57/152), and, in 10% of these patients, pulmonary arteriovenous malformations (PAVMs) were not detected. On the other hand, 51% of patients with PAVM did not report a prophylactic antibiotic intake (n = 40/79). The patients who needed iron supplementations suffered more often from sepsis (OR: 9.00, 95%CI: 0.92–88.16). Conclusions: Compared to their non-affected controls, patients with HHT showed an increased risk for infections in different organs and allergic diseases. There is a need for campaigns raising greater awareness recommending prophylactic antibiotic intake in patients with PAVM. Full article

Vesicoureteral reflux (VUR) is defined as the urine backflow from the urinary bladder to the pyelo-caliceal system. In contrast, intrarenal reflux (IRR) is the backflow of urine from the renal calyces into the tubulointerstitial space. VURs, particularly those associated with IRR can result in reflux nephropathy when accompanied by urinary tract infection (UTI). The prevalence of IRR in patients with diagnosed VUR is 1–11% when using voiding cystourethrography (VCUG), while 11.9–61% when applying the contrast-enhanced voiding urosonography (ceVUS). The presence of IRR diagnosed by VCUG often correlates with parenchymal scars, when diagnosed by a 99mTc dimercaptosuccinic acid scan (DMSA scan), mostly in kidneys with high-grade VURs, and when diagnosed by ceVUS, it correlates with the wide spectrum of parenchymal changes on DMSA scan. The study performed by both ceVUS and DMSA scans showed IRRs associated with non-dilated VURs in 21% of all detected VURs. A significant difference regarding the existence of parenchymal damage was disclosed between the IRR-associated and IRR-non-associated VURs. A higher portion of parenchymal changes existed in the IRR-associated VURs, regardless of the VUR grade. That means that kidneys with IRR-associated VURs represent the high-risk group of VURs, which must be considered in the future classification of VURs. When using ceVUS, 62% of places where IRR was found were still unaffected by parenchymal changes. That was the basis for our recommendation of preventive use of long-term antibiotic prophylaxis until the IRR disappearance, regardless of the VUR grade. We propose a new classification of VURs using the ceVUS method, in which each VUR grade is subdivided based on the presence of an IRR. Full article