Around 180 genes have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in mice, and represent promising novel candidate genes for human CAKUT. In whole-exome sequencing data of two siblings with genetically unresolved multicystic dysplastic kidneys (MCDK), prioritizing variants in murine CAKUT-associated genes yielded a rare variant in the teashirt zinc finger homeobox 3 (TSHZ3) gene. Therefore, the role of TSHZ3 in human CAKUT was assessed. Twelve CAKUT patients from 9/301 (3%) families carried five different rare heterozygous TSHZ3 missense variants predicted to be deleterious. CAKUT patients with versus without TSHZ3 variants were more likely to present with hydronephrosis, hydroureter, ureteropelvic junction obstruction, MCDK, and with genital anomalies, developmental delay, overlapping with the previously described phenotypes in Tshz3-mutant mice and patients with heterozygous 19q12-q13.11 deletions encompassing the TSHZ3 locus. Comparable with Tshz3-mutant mice, the smooth muscle layer was disorganized in the renal pelvis and thinner in the proximal ureter of the nephrectomy specimen of a TSHZ3 variant carrier compared to controls. TSHZ3 was expressed in the human fetal kidney, and strongly at embryonic day 11.5-14.5 in mesenchymal compartments of the murine ureter, kidney, and bladder. TSHZ3 variants in a 5' region were more frequent in CAKUT patients than in gnomAD samples (p < 0.001). Mutant TSHZ3 harboring N-terminal variants showed significantly altered SOX9 and/or myocardin binding, possibly adversely affecting smooth muscle differentiation. Our results provide evidence that heterozygous TSHZ3 variants are associated with human CAKUT, particularly MCDK, hydronephrosis, and hydroureter, and, inconsistently, with specific extrarenal features, including genital anomalies.

• MeSH
• Child MeSH
• Heterozygote * MeSH
• Homeodomain Proteins genetics   MeSH
• Infant MeSH
• Kidney abnormalities   metabolism   MeSH
• Humans MeSH
• Mutation, Missense MeSH
• Urinary Tract abnormalities   metabolism   MeSH
• Multicystic Dysplastic Kidney genetics   MeSH
• Mice MeSH
• Child, Preschool MeSH
• Transcription Factors genetics   MeSH
• Urogenital Abnormalities genetics   pathology   MeSH
• Vesico-Ureteral Reflux MeSH
• Animals MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Male MeSH
• Mice MeSH
• Child, Preschool MeSH
• Female MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

Prezentujeme kazuistiku 26letého pacienta s náhodným záchytem intraabdominální fibromatózy (desmoidu) v oblasti malé pánve, který se do urologické ambulance dostavil pro erektilní dysfunkci. Při vyšetření ultrazvukem byla odhalena hydronefróza pravé ledviny s redukcí parenchymu, v oblasti malé pánve byl pak zachycen objemný tumor, který utlačoval pravostranný ureter. U pacienta bylo doplněno CT vyšetření, které potvrdilo solidní tumor nejasného původu v oblasti malé pánve. Jeho povaha i způsob léčby byly diskutovány multidisciplinárním týmem, bylo rozhodnuto o nutnosti resekce tumoru. Patologem byla potvrzena sporadická varianta desmoidu. Pro desmoidní tumory je typický jak lokálně agresivní, karcinomy imitující růst, tak časté recidivy po resekci, které si mohou vyžádat následnou onkologickou léčbu. Z těchto důvodů mají být pacienti s desmoidy sledováni onkologem, ideálně v centrech, která mají s léčbou tohoto vzácného onemocnění zkušenosti.

We present a case report of a 26-year-old patient with an incidental finding of intra-abdominal fibromatosis (desmoid) in the small pelvis who presented to the urology outpatient clinic for erectile dysfunction. Ultrasound examination revealed hydronephrosis of the right kidney with parenchymal reduction, and a bulky tumor was detected in the small pelvis, which was compressing the right-sided ureter. The patient was followed up with a CT scan which confirmed a solid tumour in the small pelvis of unclear origin, the nature of the tumour and the treatment were discussed by the multidisciplinary team and a decision was made to resect the tumour. Pathologist confirmed sporadic variant of desmoid. Desmoid tumors are characterized by both locally aggressive carcinomas mimicking growth and frequent recurrences after resection, which may require subsequent oncological treatment. For these reasons, patients with desmoids should be followed up by an oncologist, ideally at centers experienced in treating this rare disease.

• MeSH
• Desmoid Tumors * diagnostic imaging   diagnosis   drug therapy   complications   therapy   MeSH
• Adult MeSH
• Erectile Dysfunction diagnosis   etiology   MeSH
• Gardner Syndrome diagnosis   complications   MeSH
• Hydronephrosis * diagnosis   etiology   MeSH
• Humans MeSH
• Nephrectomy methods   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

BACKGROUND: High-level evidence supporting the role of repeat transurethral resection (reTUR) in non-muscle-invasive bladder cancer (NMIBC) is lacking. A randomized controlled trial (RCT) assessing whether immediate reTUR has an impact on patient prognosis is essential. However, since such a RCT will require enrollment of a high number of patients, a preliminary feasibility study is appropriate. OBJECTIVE: To assess the feasibility of an RCT investigating the impact of immediate reTUR + adjuvant bacillus Calmette-Guérin (BCG) versus upfront induction BCG after initial TUR in NMIBC. DESIGN, SETTING, AND PARTICIPANTS: Eligible patients were randomly assigned to receive either reTUR + adjuvant BCG or upfront induction BCG after TUR. Patients with macroscopically completely resected high-grade T1 NMIBC, with or without concomitant carcinoma in situ, and with detrusor muscle (DM) present in the initial TUR specimen were considered eligible for inclusion. Exclusion criteria included lymphovascular invasion (LVI), histological subtypes, hydronephrosis, concomitant upper tract urothelial carcinoma (UTUC), or urothelial carcinoma within the prostatic urethra. The aim was to enroll 30 patients in this feasibility study. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: The patient recruitment rate was the primary outcome. Oncological outcomes (recurrence-free and progression-free survival) were secondary endpoints. RESULTS AND LIMITATIONS: Overall, 30 patients (15 per arm) were randomized over a period of 14 mo (August 2020-October 2021). Two eligible patients refused the randomization, resulting in a patient compliance rate of 93.3% for the study protocol. We excluded 49 ineligible patients before randomization because of histological subtypes (n = 16, 33%), LVI (n = 9, 18%), DM absence in the TUR specimen (n = 12, 24%), metastatic disease (n = 5, 10%), concomitant UTUC (n = 3, 6%), or hydronephrosis (n = 4, 8%). At reTUR, persistent disease was found in four patients (29%) and upstaging to muscle-invasive disease in one (7%). Over median follow-up of 17 mo, disease recurrence was detected in three patients (23%) in the reTUR arm and six patients (40%) in the upfront BCG arm. Progression to muscle-invasive disease was observed in one patient treated with upfront BCG. CONCLUSIONS: The feasibility of conducting an RCT comparing upfront BCG versus reTUR + BCG in high-grade T1 NMIBC has been demonstrated. Our results underline the need to screen a large number of patients owing to characteristics meeting the exclusion criteria in a high percentage of cases. PATIENT SUMMARY: We found that a clinical trial of the role of a repeat surgical procedure to remove bladder tumors through the urethra would be feasible among patients with high-grade non-muscle-invasive bladder cancer. These preliminary results may help in refining the role of this repeat procedure for patients in this category.

• MeSH
• Adjuvants, Immunologic * therapeutic use   MeSH
• BCG Vaccine * therapeutic use   administration & dosage   MeSH
• Cystectomy methods   MeSH
• Neoplasm Invasiveness * MeSH
• Combined Modality Therapy MeSH
• Middle Aged MeSH
• Humans MeSH
• Non-Muscle Invasive Bladder Neoplasms MeSH
• Urinary Bladder Neoplasms * surgery   pathology   drug therapy   MeSH
• Reoperation MeSH
• Aged MeSH
• Feasibility Studies * MeSH
• Urethra MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Randomized Controlled Trial MeSH
• Comparative Study MeSH

OBJECTIVE: Sparse data exist on the impact of upper urinary tract (UUT) decompression on the risk of UUT recurrence in patients with bladder cancer (BCa). This study aims to evaluate whether Double J stenting (DJS) can increase the risk of UUT recurrence compared to percutaneous nephrostomy (PCN) placement. MATERIALS AND METHODS: We retrospectively analyzed data from 1550 patients with cTa-T3NanyM0 BCa who underwent radical cystectomy (RC) between at 12 tertiary care centers (1990-2020). Patients with complete follow-up, no prior history of UUT cancer, and who required UUT decompression for preoperative hydronephrosis were selected. Hydronephrosis grade was defined according to established scoring systems. UUT recurrence was diagnosed through imaging, urinary cytology, and confirmed by selective cytology and ureteroscopy when possible. Propensity scores were computed to determine overlap weights and balance groups. Kaplan-Meier analyses estimated UUT recurrence-free survival (RFS), cancer-specific (CSS), and overall survival (OS) before and after weighting. Cox regression analyses before and after weighting were fitted to predict UUT recurrence. RESULTS: Of 524 included patients, 132 (25%) and 392 (75%) patients were managed with DJS and PCN placement, respectively. Patients who received PCN had higher grade (≥ 3) of obstruction (34% vs. 14%) and pT3-4 tumors (70% vs. 36%) than patients with DJS. During a median follow-up of 19 months, 2-years UUT-RFS did not differ between groups (95% for PCN vs 92% for DJS, weighted HR 1.41, 95% CI, 0.55-3.59). There was no difference in 2-years weighted CSS (74% vs. 74%) and OS (67% vs 69%). Main limitations were the short follow-up and inclusion of patients uniquely undergoing RC. CONCLUSIONS: These results suggest that ureteral DJS does not increase the risk of developing UUT recurrence in BCa patients with hydronephrosis requiring UUT decompression. However, UUT recurrence was rare, and associations were weak, with findings susceptible to bias. Randomized trials are needed to validate these results.

• MeSH
• Cystectomy MeSH
• Hydronephrosis etiology   MeSH
• Carcinoma, Transitional Cell surgery   pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Urinary Bladder Neoplasms * surgery   pathology   MeSH
• Ureteral Neoplasms surgery   pathology   MeSH
• Follow-Up Studies MeSH
• Nephrostomy, Percutaneous MeSH
• Retrospective Studies MeSH
• Neoplasms, Second Primary surgery   pathology   MeSH
• Aged MeSH
• Stents * MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Cíl: Laparoskopická uretero-pyeloanastomóza (UPA) představuje alternativu v léčbě zdvojených anomálií ledvin se zachovanou funkcí horní moiety nebo tam, kde je heminefrektomie obtížná či riskantní. Cílem je zhodnotit naše dlouhodobé zkušenosti s touto technikou. Soubor: Retrospektivní hodnocení souboru 35 pacientů, u kterých byla v letech 2011–2023 provedena laparoskopická UPA. Ve třech případech šlo o inkompletní zdvojení ledviny s hydronefrózou dolního segmentu, v ostatních případech (32) o kompletní zdvojení s megaureterem horního segmentu zakončeným ureterokélou v devíti a ektopií močovodu ve 23 případech. Laparoskopickou operaci jsme indikovali u dětí starších jednoho roku, s minimální hmotností 10 kg, s významnou dilatací zdvojeného systému horních močových cest, bez vezikoureterálního refluxu do dolního a zachovalou funkcí horního segmentu. Hodnotili jsme věk pacientů v době operace, délku výkonu, úspěšnost, délku sledování a komplikace. Výsledky: Střední věk pacientů byl 29 (14–184) měsíců, střední délka výkonu 210 (110–320) minut. U všech pacientů došlo k významnému zmenšení či vymizení dilatace horních močových cest. Střední délka sledování byla 18 (5–120) měsíců, žádný z pacientů nevyžadoval reoperaci. Nejčastější komplikací byl časný únik moči z anastomózy u sedmi (20 %) dětí. Příčinou byla v pěti případech porucha drenáže (2× malfunkce nefrostomie, 3× malfunkce ureterální cévky), ve dvou případech pacient operovaný bez použití derivace. Komplikaci jsme vyřešili zavedením ureterálního katétru (3×) a ureterálního stentu (4×). Závěr: Laparoskopická UPA představuje alter- nativní způsob řešení některých forem zdvojených anomálií ledvin u dětí. Má vysokou úspěšnost a nízký výskyt komplikací. Nejčastější komplikací je únik moči z anastomózy, proto je nezbytné zvolit spolehlivý typ derivace moči.

Aim: Laparoscopic ureteropyelostomy (UPS) represents alternative method in treatment of duplex kidney anomalies with preserved function of upper pole moiety, where the heminephrectomy is risky or impossible. We present long-time experiences with this technique. Materials and methods: Retrospective evaluation of 35 patients after UPS done between 2011 and 2023. In 3 cases we performed surgery because of hydronephrosis of lower moiety in patients with incomplete duplication. Remaining cases (32) were operated because of complete duplication. With ectopic megaureter in 23 cases, with ectopic ureterocele in 9. Laparoscopic operation was recommended in children older than one year, minimally 10 kg, significant kidney dilatation, no reflux and preserved upper segment function. We evaluated age of patients, operating time, success rate, follow up and complications. Results: Median age was 29 (14-184) months, median operating time 210 (110-320) minutes. In all patients decreased or vanished upper tract dilatation. Median follow up was 18 (5-120) months. No reoperations were recorded. The most frequent complication was urinary leak from anastomosis in 7 (20%) cases. The reason was failure of urine diversion in 5 children (2 nephrostomy failure, ureteral catheter dysfunction in 3), remaining 2 patients were operated without urine diversion. Complications were resolved by ureteral catheter insertion in 3 and ureteral stent insertion in 4 cases. Conclusion: Laparoscopic UPS represents alternative mini-invasive method in duplex kidney anomalies treatment. It has high success rate and low rate of complications. The most frequent problem is urine leak from anastomosis. Therefore, the choice of reliable urine diversion is critical.

• Keywords
• Zdvojení ledviny, uretero-pyeloanastomóza,
• MeSH
• Anastomosis, Surgical * methods   MeSH
• Child MeSH
• Urinary Diversion methods   MeSH
• Hydronephrosis surgery   etiology   MeSH
• Laparoscopy * methods   MeSH
• Kidney abnormalities   surgery   embryology   MeSH
• Humans MeSH
• Retrospective Studies MeSH
• Stents MeSH
• Urogenital Abnormalities * surgery   embryology   MeSH
• Urologic Surgical Procedures methods   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH

Tento článek pojednává o chirurgickém řešení hydronefrózy (hydronefros) u zakrslého králíka. Jedná se o polymorbidního pacienta s kon kurentním mediastinálním thymomem a otitis media. Na případu našeho pacienta je popsaný laterální chirurgický přístup k nefrektomii, pooperační péče a následný vývoj zdravotního stavu.

This article describes the case of surgically treatment for hydronephrosis in a pet rabbit. Our rabbit is a polymorbidic patient with con current mediastinal thymoma and otitis media. In the case of our patient, the lateral surgical treatment for nephrectomy, postoperative care and subsequent development of overall status are described.

• MeSH
• Hydronephrosis * diagnostic imaging   diagnosis   pathology   MeSH
• Rabbits MeSH
• Nephrectomy methods   MeSH
• Radioisotope Renography MeSH
• Animals MeSH
• Check Tag
• Rabbits MeSH
• Female MeSH
• Animals MeSH
• Publication type
• Case Reports MeSH

CONTEXT: There is no high-level evidence regarding the risk factors of glomerular filtration rate (GFR) loss following radical cystectomy (RC) and survival outcomes of patients with chronic kidney disease (CKD) undergoing RC. OBJECTIVE: To identify the risk factors of CKD in patients treated with RC for bladder cancer and to assess overall and oncological survival of patients with CKD who underwent RC. EVIDENCE ACQUISITION: According to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement, two systematic reviews were performed for studies published before September 30, 2022, assessing (1) risk factors of renal function (RF) decline following RC and (2) overall and oncological outcomes of CKD patients treated with RC. EVIDENCE SYNTHESIS: A total of 21 and 17 studies were included for qualitative and quantitative syntheses, respectively. The first meta-analysis of ten studies (15 502 patients) identified these factors to be significantly associated with GFR loss following RC: advanced age, lower baseline RF, higher Charlson Comorbidity Index (CCI), diabetes mellitus, hypertension, postoperative hydronephrosis, ureteroenteric stricture, and locally advanced disease (hazard ratios [HRs] 1.03, 1.22, 1.5, 1.27, 1.24, 1.69, 1.92, and 5.13, respectively), while sex, preoperative hydronephrosis, perioperative chemotherapy, and diversion type were not. The second meta-analysis of seven studies (6900 patients) demonstrated significantly worse metastasis-free, cancer-specific, and overall survival in patients with higher CKD stages than in those with lower stages (HRs 1.54, 2.09, and 1.47, respectively). CONCLUSIONS: Current evidence suggests that older age, lower baseline RF, higher CCI, diabetes mellitus, hypertension, postoperative hydronephrosis, ureteroenteric stricture, and locally advanced disease are associated with long-term GFR loss following RC. In addition, patients with higher stages of CKD have worse long-term overall and oncological outcomes following RC. These data may help in counseling and decision-making regarding therapy and preventive measures. PATIENT SUMMARY: Several factors have been identified that can help identify patients at risk for glomerular filtration rate loss after radical cystectomy (RC). Chronic kidney disease is associated with poor cancer- and non-cancer-specific outcomes following RC.

• MeSH
• Renal Insufficiency, Chronic * complications   epidemiology   MeSH
• Cystectomy adverse effects   MeSH
• Diabetes Mellitus * surgery   MeSH
• Glomerular Filtration Rate MeSH
• Hydronephrosis * surgery   MeSH
• Hypertension * MeSH
• Kidney MeSH
• Humans MeSH
• Urinary Bladder Neoplasms * surgery   MeSH
• Risk Factors MeSH
• Constriction, Pathologic MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Meta-Analysis MeSH
• Review MeSH

BACKGROUND: Imperforate hymen is the most common congenital defect of the female urogenital tract. The spectrum of clinical manifestations is broad, ranging from mild cases undiagnosed until adolescence to severe cases of giant intraabdominal masses. The most common complication of hydrocolpos is bladder compression, resulting in obstructive uropathy and hydronephrosis. CASE PRESENTATION: We present here the case of a preterm neonate who was admitted to the surgical neonatal intensive care unit for bowel obstruction. The baby did not appear septic or unwell, a small amount of meconium passed frequently, and no bilious gastric residuals occurred. Based on these findings, acute abdominal obstruction was doubtful, and the surgeon chose a conservative (watch and wait) approach. Subsequently, we performed abdominal ultrasound and magnetic resonance imaging based on unclear information about a suspicious abdominal mass raised by the gynecologist shortly before the emergency C-section. The final diagnosis was congenital hydrocolpos due to imperforate hymen. The pediatric gynecologist indicated an incision of the imperforate hymen under general anesthesia. The incision resolved abdominal distention as well as the bowel obstruction. CONCLUSION: The presentation of hydrocolpos was not typical (no bulging in the vaginal introitus) in our case, and clinical symptoms implied acute bowel obstruction shortly after birth. The surgeon chose a conservative (watch and wait) approach as the baby did not appear unwell on the second day of life. Fortunately, diagnostic laparotomy was not required as the next step in bowel obstruction management. All clinical symptoms resolved after a minor surgical procedure.

• Publication type
• Journal Article MeSH

Adenokarcinom močového měchýře je vzácný histologický nález. Vyskytuje se buď jako primární adenokarcinom močového měchýře, nebo jako sekundární, kdy bývá nejčastějším zdrojem adenokarcinom střeva, prostaty, plic a prsu. Popisujeme případ pacienta s primárním adenokarcinomem močového měchýře.

Bladder adenocarcinoma is a rare histological finding. It occurs either as primary bladder adenocarcinoma, or as a secondary. In the case of secondary occurrence, adenocarcinoma of intestine, prostate, lungs and breast is the most common source. We describe a case of patient with primary adenocarcinoma of bladder.

• MeSH
• Adenocarcinoma * surgery   diagnostic imaging   pathology   MeSH
• Hematuria etiology   MeSH
• Hydronephrosis diagnostic imaging   etiology   MeSH
• Immunohistochemistry MeSH
• Humans MeSH
• Urinary Bladder Neoplasms * surgery   diagnostic imaging   pathology   MeSH
• Tomography, X-Ray Computed MeSH
• Aged MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Publication type
• Case Reports MeSH

To identify risk factors for upper urinary tract recurrence (UUTR) in patients treated with radical cystectomy (RC) for urothelial bladder carcinoma (UBC). The PubMed, Web of Science, and Cochrane Library were searched on March 2022 to identify relevant studies according to the Preferred Reporting Items for Systematic Review (PRISMA) statement. We included studies that provided multivariate logistic regression analyses. The pooled UUTR rate was calculated using a fixed effect model. We identified 235 papers, of which seven and 6 articles, comprising a total of 8981 and 8404 UBC patients, were selected for qualitative and quantitative analyses, respectively. Overall, 418 (4.65%) patients were diagnosed with UUTR within a median time of 1.4 to 3.1 years after RC. Risk factors for UUTR were surgical margin (hazard ratio [HR] 3.41, 95% confidence interval [CI] 2.59-4.49, P < .00001), preoperative hydronephrosis (HR: 1.74, 95% CI: 1.25-2.43, P = .001), ureteral margin (HR: 4.34, 95% CI: 2.75-6.85, P < .00001), and pT stage (HR: 2.69, 95% CI: 1.37-5.27, P < .004). Incorporation of established risk factors into a clinical prediction model might aid in the decision-making process regarding the intensity and type of surveillance protocols after RC as well as help determine the pretest probability of UUTR.

• MeSH
• Cystectomy methods   MeSH
• Carcinoma, Transitional Cell * surgery   pathology   MeSH
• Humans MeSH
• Neoplasm Recurrence, Local epidemiology   surgery   MeSH
• Urinary Tract * pathology   MeSH
• Urinary Bladder pathology   MeSH
• Urinary Bladder Neoplasms * surgery   pathology   MeSH
• Prognosis MeSH
• Retrospective Studies MeSH
• Models, Statistical MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Meta-Analysis MeSH
• Review MeSH
• Systematic Review MeSH