Renal ultrasound as a surveillance method for ureteroenteric anastomotic stricture following radical cystectomy and urinary diversion.

To assess long-term outcomes of vesicostomy on bladder capacity (BC) and voiding function in non-neurogenic bladder, and explore the association between kidney ultrasonographic findings and renal function. Thirty-four patients under 2 years at the time of vesicostomy formation (2005-2020) with ≥3 years of follow-up were reviewed. Patients were further stratified based on neurogenic bladder status. Twenty-one patients were non-neurogenic. A subgroup analysis of 7 patients under 3 months with primary vesicoureteral reflux (VUR) and compromised renal function was conducted. The median age at vesicostomy formation was 1.0 months (interquartile range [IQR] 0.0-3.5); the median duration of vesicostomy was 16.0 months (IQR 8.0-21.0). At a median age of 93.0 months (IQR 59.5-117.5), all patients achieved spontaneous micturition and continence. Eleven patients (52.4%) showed bell-shaped voiding patterns. Five patients showed interrupted (n=2) or plateau (n=3) patterns. With the exemption one patient, all patients with primary VUR showed bell-shaped curves. None initiated clean intermittent catheterization during follow-up. The median BC-to-estimated BC in patients with non-neurogenic bladder and primary VUR was 0.9 (IQR 0.7-1.1) and 0.9 (IQR 0.8-1.1), respectively. Three patients underwent revision due to prolapse. The glomerular filtration rate (GFR) was improved by 68.9% compared to the baseline (p=0.045). Parenchymal abnormalities on kidney ultrasonography were associated with decrease in GFR. Vesicostomy in non-neurogenic bladder patients was associated with recovery of BC, preservation of continence, and improved renal function. Parenchymal abnormalities on ultrasonography predicted lower GFR.

Versatility of contrast enhanced colosonography for pre-operative evaluation of anorectal malformation with fistula.

Objective: To evaluate the frequency of urinary tract infection (UTI) in neonates with prolonged jaundice. Study Design: Quasi-experimental study. Place and Duration of Study: Neonatal Unit, Ghurki Trust Teaching Hospital, Lahore Pakistan, from Apr to Oct 2022. Methodology: The study included 140 newborns having jaundice for >2 weeks. Blood and urine samples were obtained from patients upon admission and urine samples were sent for culture and urinalysis to detect the presence of pyuria, where 10,000 CFUs of a single infectious agent indicated a urinary tract infection. Additional examinations such as kidney function tests, renal ultrasonography, voiding cystourethrography, and renal scintigraphy were conducted on patients who had a positive urine culture for bacteria. Results: Out of 140 patients, 88(62.86%) were males and 52(37.14%) were females. In 26 out of 140 neonates (18.57%), UTI was present. Out of 26, 12(23.08%) were females and 14(15.91%) were males. UTI positive group had significant serum bilirubin values compared to UTI negative group (p<0.001). The microorganisms that were found in isolation were Proteus mirabilis in 4(15.38%), Klebsiella pneumonia in 6(23.08%), and Escherichia coli in 16(66.67%) patients. Conclusion: The prevalence of urinary tract infection in neonates presenting with prolonged jaundice is significant and females were noted to be affected more.

This study evaluated renal health in non-azotemic geriatric dogs using routine biomarkers, including the urinary protein-to-creatinine ratio (UPC), urinalysis, fractional excretion of chloride, urinary gamma-glutamyl transferase (uGGT), and urinary alkaline phosphatase (uALP), aiming to identify early indicators of renal injury. These biomarkers were compared with structural changes observed via renal ultrasonography. A total of 84 dogs were enrolled and divided into two groups: young (n = 10; 1-4 years) and geriatric (n = 74; 7-17 years). All dogs underwent complete blood counts, serum biochemistry (creatinine, urea, alkaline phosphatase, alanine aminotransferase, sodium, potassium), and urinary analyses (urinary creatinine, chloride, UPC, uGGT, uALP), along with urinalysis. Renal ultrasonography was performed in dogs with abnormal UPC values. Statistically significant differences were found in UPC and the uGGT/urinary creatinine ratio (p < 0.05). A notable proportion of non-azotemic geriatric dogs showed proteinuria (UPC > 0.5). In these cases, ultrasonography revealed alterations in renal echogenicity-ranging from preserved to mild or marked changes-as well as varying degrees of corticomedullary differentiation and loss of renal architecture. The integration of accessible, low-cost laboratory tests with ultrasonographic assessment offers a more comprehensive evaluation of renal function and morphology, highlighting the importance of early detection for effective management and improved quality of life in aging dogs. As this was a cross-sectional study, evaluation was limited to a single time point; longitudinal follow-up would be valuable to clarify disease progression, especially in borderline or mildly proteinuric dogs.

Individuals with neurogenic lower urinary tract dysfunction after spinal cord injury should undergo regular scintigraphy to assess renal function. However, renal scintigraphy entails radiation exposure and is not widely available. Consequently, reliable alternative diagnostic parameters are needed. We have, thus, investigated whether renal sonography and cystatin-C measurements are consistent with renal scintigraphy results in this population. Adult individuals with chronic spinal cord injury (duration ≥ 5 years) underwent renal sonography and cystatin-C measurement during routine consultation, followed by renal scintigraphy within six weeks. The correlation between renal sonographic parameters (arterial resistive index, renal parenchymal thickness, and kidney dimensions), serum cystatin-C, and scintigraphy clearance values was assessed using Pearson and Spearman's rank correlation coefficients. Furthermore, the classification accuracy (for scintigraphy clearance ≤ 150ml/min) of variables with statistically significant correlation coefficients was investigated. Data of 8 women and 42 men (54 ± 14 years old; duration spinal cord injury 24.4 ± 14.6 years) were analyzed. There was a fair correlation between scintigraphy clearance and cystatin-C levels (r = -0.37, p = 0.013) as well as left renal resistive index (r = -0.44, p = 0.002). However, there were no correlations between scintigraphy clearance and renal parenchymal thickness (p > 0.45) as well as kidney dimensions (p > 0.13). Cystatin-C and left renal resistive index showed good classification performance (area under curve = 0.74/0.84, p < 0.00001). Individuals with reduced renal function can be identified reliably using cystatin-C serum concentration and renal arterial resistance. These parameters may serve as additional diagnostic parameters to assess renal function and to determine whether scintigraphy examination is required. NCT04241666.

A BSTRACT Purpose: Vesicoureteral reflux (VUR) is commonly seen in children. However, in Indian literature, not much has been discussed about bladder dysfunction (BD) in VUR. The present study aims to study BD in children with primary VUR. Methods: In this prospective study, 86 children with primary VUR were enrolled over a 2-year duration with at least 1 year of follow-up. BD was studied using noninvasive (history, ultrasound kidney ureter bladder, and Dysfunctional Voiding Scoring System) and invasive (urodynamic study [UDS]) methods and was classified into (1) underactive bladder, (2) overactive bladder (OAB), and (3) significant postvoid residue (PVR) in those who underwent UDS. Those who underwent surgery were followed up and assessed for improvement in BD. Results: Overall incidence of BD in cases of primary VUR was 41.8% ( n = 36). Among toilet-trained children ( n = 48), 30 underwent UDS, and 18 (60%) were found to have BD. In 18 cases where UDS was not possible, 10 (55.5%) had BD. In nontoilet-trained children ( n = 38), 8 out of 38 (21%) had BD. Among those with BD ( n = 36), 21 (58%) patients underwent surgery for VUR. Improvement in bladder function was observed in 18 out of the 21 patients (85.7%) postsurgery. Among the toilet-trained children where UDS could be done, improvement was found in 66.6% of cases ( n = 6), while improvement was seen in 100% of cases ( n = 9), where UDS could not be done. In nontoilet-trained children, improvement was seen in 100% of cases ( n = 3). Conclusion: BD has a potential role in defining indications for surgery in VUR. Objective assessment of BD by UDS is accurate, but it cannot be used in nontoilet-trained children. Underactive bladders and patients with significant PVR need early surgical intervention. OABs need pharmacological intervention to increase bladder capacity and decrease the bladder pressures before surgery can be advised.

Ultrasound (US) is an increasingly utilized imaging technique in nephrology, for diagnostic and interventional applications. In spite of growing interest, its implementation across Italian nephrology centers remains poorly documented. To address this gap, a cross-sectional study was conducted to explore the modalities ofthe training of expert nephrologists and current practices of diagnostic and interventional USprocedures performed by nephrologistsin Italy. We developed a 24-question electronic survey that collected data on (1) participants' background (years in US practice and certification), (2) type of US examinations performed (B-mode US, echo color Doppler studies, echocardiography, arteriovenous fistula [AV] assessment, US in peritoneal dialysis, and contrast-enhanced US), and (3) US-guided interventional procedures (kidney biopsies, central venous catheter [CVC] placements, and AV fistula [AVF] complications). Questionnaires were returned by 115 nephrology units across Italy. Only 39% of respondents held formal US certification, and 65% stated they wished to attend US courses. Renal and urinary tract US was performed in 90% of respondentcenters, followed by AV fistula echo color Doppler in 72%. However, advanced applications such as lung US or echocardiography were carried out in only 32% and 12% of centers, respectively. Regarding US-guided procedures, nephrologists performed CVC placements in 64% of respondingcenters and kidney biopsies in 37%. This survey showed that US is widely used in Italian nephrologycenters for renal and urinary tract imaging, AVF assessment, and CVC insertion. However, it also revealed a strong interest among nephrologists in further enhancing their US competencies through structured training programs, which should be promoted to improve the performance and diffusion of US in nephrology care.

Fetal renal ultrasonography in canine pregnancy: relationship with maternal and fetal metrics for assessing fetal maturity.

Introduction: This study aimed to investigate the relationship between left ventricular ejection fraction (LVEF) measured on preoperative transthoracic echocardiography (TTE) and peak systolic velocity (PSH) and resistance index (DI) calculated on postoperative renal Doppler ultrasonography. Methods: The study retrospectively included 68 renal transplant patients. TTE measurements were taken for all patients, and LVEF was recorded. Renal Doppler ultrasonography recorded PSH and DI. Patients were divided into two groups based on LVEF below 55% (group 1, n=24) and above (group 2, n=44). Results: Of the patients participating in our study, 21 (30.8%) were female and 47 (69.2%) were male. The mean age of the patients in the study was 53.2±9.27 years. Urea was significantly lower in patients with LVEF values above 55% (85.9±31.5 vs. 103.3±35.2; p=0.02). On the other hand, PSV and RI were significantly lower in the group with LVEF values above 55% (188.2±33.1 vs. 238.7±40.2; p=0.02; 0.64±0.15 vs. 0.78±0.19; p=0.04, respectively). A negative correlation was also found between LVEF values and PSV and RI (r= -0.731, p=0.007; r= -0.602, p=0.01, respectively). Conclusion: In this study, renal transplant patients with echocardiographic LVEF greater than 55% had significantly lower RI and PSV determined by renal Doppler ultrasonography.

Urinary tract infections (UTIs) among infants ≤ 3 months old are associated with a high risk of recurrence and renal scarring, yet evidence identifying high-risk infants remains limited. We aimed to identify predictors of UTI recurrence and factors associated with renal scarring in this population. A retrospective chart review was conducted on febrile infants ≤ 3 months at a tertiary paediatric hospital in Singapore, between January 2018 and June 2023. We defined recurrence as any episode occurring within 1 year of the index UTI and renal scarring based on the Technetium-99m 2,3-dimercapto-succinic-acid (DMSA) scan. Multivariable logistic regression was performed to predict for UTI recurrence and renal scarring, using covariates selected a priori. We presented the adjusted odds ratio (aOR) with corresponding 95% confidence interval (95%CI). Among 401 infants (median age: 49 days [28-70]; 76% male), 49 (12.2%) experienced recurrent UTI. Male sex (aOR = 2.80, 95%CI:1.14-8.46, p = 0.041) and ultrasound kidney, ureter, and bladder (US KUB) abnormalities (aOR = 2.72, 95%CI:1.40-5.27, p < 0.05) independently predicted recurrence. Among 161 infants with DMSA performed, 21 (13.0%) developed renal scarring. Scarring was associated with bacteraemia (OR = 4.38, 1.54-12.05, p < 0.05), elevated procalcitonin ≥ 0.5 ug/L (OR = 16.82, 4.53-109.39, p < 0.001), non-E.coli uropathogen (OR = 6.18, 2.37-17.49, p < 0.001), hydronephrosis (OR = 3.04, 1.17-7.87, p < 0.05), and vesicoureteral reflux (VUR) (OR = 18.70, 4.31-133.32, p < 0.001), particularly high-grade severity ≥ 3 (OR = 25.50, 5.74-185.47, p < 0.001). Additionally, multivariable analysis identified US KUB abnormalities (aOR = 3.00, 1.57-5.73, p < 0.001) as an independent predictor of renal scarring. We reported independent predictors of UTI recurrence and risk factors for renal scarring. These patients should receive more intensive monitoring after their index UTI.

A previously healthy 47-year-old Saudi male presented with a two-month history of painless gross hematuria and notable digital clubbing. The hematuria was intermittent, dark red, and unassociated with dysuria, flank pain, or systemic symptoms. Physical examination confirmed clubbing of the fingers, while vital signs and general assessment were unremarkable. Laboratory evaluation revealed mild polycythemia and borderline hypercalcemia, with otherwise normal renal and liver function. Urinalysis excluded infection or glomerular disease, and urinary cytology was negative for urothelial malignancy. Given the combination of persistent hematuria and paraneoplastic signs, imaging studies were prioritized. Renal ultrasonography identified a heterogeneous right upper pole mass, subsequently characterized by contrast-enhanced CT as a 6-cm right renal mass with heterogeneous enhancement and areas of necrosis, consistent with renal cell carcinoma (RCC), without evidence of metastasis. Multidisciplinary discussion favored radical nephrectomy, which was performed successfully with en bloc excision of the kidney, perinephric fat, and regional lymph nodes. Histopathology confirmed clear cell RCC, Fuhrman grade II, with negative margins and no lymphovascular invasion (pT1bN0M0). Postoperatively, hematuria resolved, and early regression of clubbing was observed. This case highlights the diagnostic significance of gross hematuria combined with paraneoplastic manifestations such as clubbing, emphasizing the importance of early imaging and prompt surgical intervention for localized RCC to optimize outcomes.

To investigate whether spleen volume and its changes on imaging could serve as novel, noninvasive biomarker and predictor of renal graft function within the first post-transplant year, and to compare their prognostic performance with conventional imaging parameters such as the renal artery resistive index (RI) for predicting graft function decline. This retrospective study included 76 renal transplant recipients who had preoperative and 6-month postoperative non-contrast abdominal CT and renal Doppler ultrasonography. Spleen and graft volumes were measured volumetrically on CT, while RI was recorded at 1 and 6 months postoperatively. Changes in RI and spleen/graft volumes were calculated. Glomerular filtration rate at months 1 and 12 was used to determine graft function decline, defined as a ≥ 10 mL/min/1.73m² GFR decrease. Associations between these parameters were analyzed using non-parametric statistics. Patients with graft function decline exhibited higher preoperative (p = 0.020) and 6-month RI (p = 0.030) values and greater RI changes (p = 0.010). Also, these patients had smaller preoperative spleen volumes (p = 0.021). Patients with decreasing follow-up spleen volume at months 6 had poorer graft function at months 12 (p = 0.004). Graft volume and its change showed no significant association with graft function. Spleen volume changes could reflect heightened systemic immune activation and limited immunologic reserve for renal transplant patients. This highlights the underrecognized bridging radiologic and immunologic role of the spleen as imaging biomarker into post-transplant immunodynamics. Routine CT spleen volumetry could offer a novel, easily accessible predictor of renal allograft function decline within first year-redefining the role of spleen in immune monitoring after renal transplantation.

The kidney contour is a critical reference for assessing whether a renal tumor has penetrated the renal capsule and invaded adjacent tissues. Accurate segmentation of the kidney contour is essential for estimating renal volume and constructing patient-specific anatomical models, which are vital for pre-operative planning and image-guided biopsy. Manual delineation of the kidney contour is time-consuming and prone to inter- and intra-observer variations. Addressing the development of novel methods for precise kidney boundary delineation in ultrasonic data is challenging owing to the absence or indistinctness of these boundaries. In this work, a novel segmentation method named a Caputo principal-curve-guided segmentation network (CPSN) integrated principal-curve (PC)-based vertex decision into a Caputo multiple-layer learning network was developed to boost the precision of ultrasound (US) kidney segmentation. First, an initial deep network was designed to extract the rough contour information. Second, the PC-based vertex decision block was adopted to determine the distribution order of vertices, which was subsequently used as the input of the Caputo multiple-layer training network. Third, the Caputo training network was further trained to decrease the global model error and improve alignment between predicted results and ground truth labels. Several experiments were conducted to validate the effectiveness and robustness of our method on multi-institute US kidney databases, which were proven to achieve superior performance compared to other state-of-the-art (SOTA) techniques, with Dice index (DI), Jaccard index (JI), and accuracy (ACC) values of 94.6 ± 3.2%, 93.4 ± 3.7%, and 94.1 ± 3.47%, respectively.

Accurate assessment of lower urinary tract symptoms (LUTS) in patients with benign prostatic hyperplasia (BPH) is one of the key tasks of a urologist for selecting adequate therapy, monitoring treatment, and determining indications for surgical treatment. The International Prostate Symptom Score (IPSS) questionnaire, developed in 1992, has become a simple and widely used method to grade the presence, type, and severity of LUTS in men with BPH. However, the IPSS has certain limitations: the poorer a patients cognitive abilities, the greater the likelihood of incorrect responses due to the complexity and abstract nature of the questions and the difficulty in translating subjective sensations into a written numerical score. In 2011, a new tool, namely the Visual Prostate Symptom Score (VPSS), was proposed as a visual analogue of the IPSS, in which the questions are presented in pictorial form, thereby reducing the dependence on literacy and cognitive function. Despite these advances, the search for the most rational and cognitively accessible questionnaire for assessing LUTS remains relevant. To compare the IPSS, modified IPSS (mIPSS), and VPSS questionnaires in men with BPH, with reference to uroflowmetry and cognitive function, and to improve the diagnostic accuracy of IPSS through its modification. A total of 72 men with symptomatic BPH presenting for initial outpatient evaluation were included in the prospective study. The median age was 68 [64-72] years. All patients underwent standard assessments according to the Russian Society of Urology clinical guidelines: urinalysis, complete blood count, prostate-specific antigen (PSA) testing, transrectal ultrasound (TRUS) with measurement of prostate volume and post-void residual urine, renal ultrasonography, and uroflowmetry. Inclusion criteria were: prostate volume 40-180 cc, residual urine less or equal 150 mL, and PSA < 4 ng/mL. Exclusion criteria were suspicion of prostate cancer or other causes of voiding dysfunction unrelated to BPH. All patients provided written informed consent, and the study was approved by the local ethics committee. Each participant completed four questionnaires, including the newly developed modified IPSS (mIPSS). In this version, the IPSS items were divided into two groups: voiding (obstructive) symptoms: questions 1, 3, 5, 6; storage (irritative) symptoms: questions 2, 4, 7. For most questions, the proportion of identical responses between questionnaires exceeded 50%, and all correlation coefficients were r > 0.6, indicating a strong association between the results and suggesting that the tools measure similar constructs and are largely interchangeable. Uroflowmetry parameters correlated significantly only with the total mIPSS score. Both Qmax and Qave showed a significant inverse correlation with mIPSS total score, while voided volume showed no correlation with any questionnaire scores. The urinary stream strength item correlated significantly with Qmax and Qave, and nocturia correlated with all three parameters (Qmax, Qave, and voided volume). This indicates that the mIPSS questionnaire can be used as a rational and sufficiently quick tool for assessing lower urinary tract symptoms (LUTS). The mIPSS and IPSS questionnaires are interchangeable in terms of the evaluated characteristics of urination; however, mIPSS shows a stronger correlation with objective uroflowmetry parameters and is therefore considered a more reliable assessment method. The results demonstrate the advantages of the modified IPSS (mIPSS) compared with the standard IPSS, owing to its stronger correlation with objective urodynamic findings and greater ease of use. The mIPSS and VPSS questionnaires may be effectively applied to identify voiding disorders, particularly in patients with cognitive impairment. At the same time, the interchangeability of the questionnaire items and the rationale for dividing the questions into obstructive and irritative categories by splitting them into two columns have been demonstrated.

Disclosure: M.B. Herrera Gonzalez: None. C. Cantu Lopez: None. N.G. Baranetsky: None.Background: Metastasis to the thyroid gland from renal cell carcinoma (RCC) is a rare event, typically observed in advanced stages of disease. RCC is known for its tendency to spread to distant organs, with the lungs, bones, and liver being the most common sites of metastasis. Thyroid metastasis, while uncommon, can occur, especially in patients with a history of RCC and advanced disease.Here, we present a case of a patient with thyroid mass due to RCC years after radical nephrectomy and unremarkable follow-up.Case presentation:A 70-year-old female with history of stage 2 RCC, status post-right radical nephrectomy performed four years ago, was referred to the endocrinology clinic due a neck mass. Her cancer history also included right breast ductal carcinoma in situ (DCIS), diagnosed in 2011, and left breast invasive ductal carcinoma (IDC) in 2019, for which she underwent lumpectomy and currently on anastrozole.The patient had been disease-free post-surgery with routine follow-up, including CT scans and renal ultrasounds, whit no signs of recurrence. On examination, she had a palpable left thyroid nodule, approximately 1 cm in size. Laboratory workup revealed a normal TSH level of 1.15 mIU/L (0.45-4.5 mIU/L) and a T4 level of 1.22 ng/dL (0.82-1.77 ng/dL).Thyroid ultrasound demonstrated a complex, cystic nodule on the left side measuring 1.6 cm. A fine needle aspiration (FNA) biopsy revealed atypical cells and classified as Bethesda III (indeterminate). She underwent left thyroidectomy. Pathology confirmed metastatic RCC. Immunohistochemical stains were positive for PAX8, CD10, and CAIX, all markers supportive of RCC, while being negative for TTF1, thyroglobulin, and BRAF V600E mutations. The Ki67 proliferative index was <5%, indicating low mitotic activity. These findings further supported the diagnosis of thyroid metastasis from RCC.Discussion:This case underscores the importance of ongoing surveillance in RCC survivors, even many years after initial treatment, as metastasis can occur long after the primary disease is considered "disease-free." Thyroid metastasis from RCC, while rare, should be considered in the differential diagnosis of thyroid nodules in patients with a history of RCC, mainly when unusual presentation patterns occur. This case contributes to understanding RCC metastasis to the thyroid, emphasizing the need for vigilance in follow-up care and highlighting the slow-growing, indolent nature of some RCC metastases, which may affect both diagnosis and treatment.Presentation: Monday, July 14, 2025

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the progressive development of renal cysts, which can ultimately result in end-stage renal failure. This condition is linked to pathogenic variants occurring in a heterozygous state in the PKD1 (located on chromosomal region 16p13.3) and PKD2 (located on 4q21–23) genes. One significant molecular event is the phenomenon of gene conversion, which occurs between PKD1 and one of its pseudogenes. This process involves the transfer of DNA sequences from the pseudogene to the functional PKD1 gene, potentially leading to mutations that cause a loss of PKD1 protein function and the subsequent manifestation of the disease. Case Report We present the case of a 38-year-old male patient with a family history of polycystic kidney disease (PKD). His father required renal replacement therapy (RRT) at the age of 44 and is presently a kidney transplant recipient. The patient was diagnosed with autosomal dominant polycystic kidney disease (PKDAD) in 2012, based on his clinical history and compatible renal ultrasound findings. Follow-up evaluations began in 2018, showing normal renal function with a creatinine level of 0.94 mg/dL and a calculated glomerular filtration rate (GFR) of 107.6 mL/min/1.73 m². In May 2019, a genetic study utilizing massive sequencing was conducted, but it did not identify specific variants clearly associated with polycystic kidney disease. A subsequent analysis for copy number variations (CNVs) also revealed no alterations in the studied genes. Consequently, the patient was informed that pre-implantation genetic diagnosis could not be considered for any future offspring. In April 2024, the Pediatric Nephrology department recommended a genetic study for the patient's 2-year-old daughter, as renal ultrasounds indicated the presence of cysts. The analysis of point variants in genes associated with cystic kidney disease revealed a PKD1 allele with three missense mutations (c.8279T&amp;gt;C; c.8282G&amp;gt;C; c.8291T&amp;gt;C), all in heterozygous form. While each substitution is considered a variant of uncertain clinical significance on its own, the combination of all three has been described as probably pathogenic. This particular combination has been reported as a result of gene conversion between PKD1 and its pseudogene PKD1P3. In light of these findings, a genetic study was repeated for the patient, and the same PKD1 alteration was identified. Conclusion Gene conversion occurs when DNA sequences are exchanged between highly similar genes due to unequal crossing over during meiosis. This process can lead to mutations if the exchanged sequence affects the gene's coding region or contains pre-existing mutations. In the context of PKDAD, gene conversion complicates molecular diagnosis because it makes the precise identification of pathogenic mutations challenging. As a result, advanced sequencing techniques are often necessary for accurate genetic evaluation. The findings emphasize the importance of periodically re-evaluating cases that previously returned negative genetic results, especially with the availability of new methodologies, databases, and updated research publications.

Abstract Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic kidney disorder, characterized by age-dependent bilateral cysts formation and progressive decline of renal function. About 80% of cases are explained by PKD1 mutations, 15% by PKD2 mutations. The remaining 5%–10% may harbor mutations in other genes, but often no pathogenic mutations are detected. In the setting of positive family history, ADPKD diagnosis mainly relies on kidney ultrasonography in adult individuals. Considering that 10%–20% of ADPKD patients are sporadic, requiring identification of a genetic mutation for diagnosis, negative genetic analysis is a significant burden. Most ADPKD molecular diagnoses rely on short-reads next generation sequencing (NGS), accurate for missense and indels, but with intrinsic limitations for more complex variants. The aim of this study is to provide a critical characterization of kidney cystic individuals with no pathogenic PKD1-PKD2 variants, to select candidates for further analyses and to providing clues toward precision medicine. Method 84 patients (48 males, 36 females) referring to our Nephrology Unit between 2018 and 2023 with a clinical suspicion of ADPKD underwent NGS analysis. Patients without pathogenic PKD1-PKD2 mutations were retrospectively evaluated and compared with genotyped ADPKD patients. The estimated glomerular filtration rate (eGFR), kidney volume and Mayo class were assessed. The eGFR decline rate was observed over years, with a mean period of observation of 4.25 years. Fast-progressors were defined as patients with an eGFR slope ≥3 ml/min/year. Results Fifty -seven and 4 patients showed PKD1 and PKD2 mutations, respectively; 23 patients (27% of the entire cohort) showed no PKD1-2 variants. Among these patients, 1 presented a SEC63 mutation. Eleven PKD1-2 negative patients (48%) were lost at follow-up after genetic analysis; 2 of them started dialysis in the following years. Mean annual eGFR slope was 2.92 ± 2.49 ml/min/1.73 m2, indicating a less severe disease than patients with PKD1 truncating mutations (6.03 ± 3.44) and more severe than patients with missense PKD1 variants (2.32 ± 2.67). High standard deviation indicated high heterogeneity. Seven of them (58%) were fast progressors; 5 (42%) had a milder disease. Among negative patients, common risks factors were equally distributed between fast and slow progressors (diabetes, hypercholesterolemia and hypertriglyceridemia, P &amp;gt; 0.999; hypertension P = 0.523, Fisher exact test). Basal eGFR, with a great intra-group variability, was also similar (slightly greater for fast progressors, with no statistical significance: 78.86 ± 36.22 vs 69.60 ± 27.26, P = 0.642, Student's t-test). However, basal height adjusted total kidney volume was greater in rapid progressors (1137.70 ± 528.19 vs 415.20 ± 366.98), a not statistically significant difference (P = 0.1981, Student's t-test), probably because of little patients numerosity. Mayo class, when appliable, was 1D (75%) or 1C (25%) for fast progressors. Conclusion kidney cystic patients with no PKD1-PKD2 mutations are believed to have a milder disease and a better prognosis. Unfortunately, in a real-life experience this paradigm is not universally respected. Many negative patients may have a rapid progression to the end stage renal disease. Among the possible causes, apart from unknown genes, there are mutations not detectable with short-reads NGS, as deletions and duplications. In the era of specific treatment for fast progressor ADPKD patients, genetic confirmation should be considered a starting point for personalized patient care.

Background: Anderson-Hynes pyeloplasty( A-H pyeloplasty ) is the established treatment for hydronephrosis. The early post-operative outcomes are variable due to use of different type of trans-anastomotic or trans-renal drainage either internal or external. It is important to evaluate the transanastomotic drainage of the pelvis after removal of the stent for the effectiveness of the procedure. The frequency and timing of follow up by imaging after A-H pyeloplasty is changeable, renal ultrasonography is commonly used. The aim of the was to document the volumetric changes of renal pelvis following A-H pyeloplastyand assess the urinary drainage through new pelvi-ureteric junction. Methods: This cohort study included 15 children who underwent A-H pyeloplasty due to pellvi-ureteric junction obstruction (PUJO) .Urinary drainage was evaluated as a term of renal pelvic volume by ultrasonography post-operatively before and after diuretic use. Antero-posterior pelvic diameter (APPD), cortical thickness (CT) and pelvi-cortical ratio (P/C ratio) was also recorded. Results: Mean APPD was 30.16mm in 1st visit, 24.16 mm in 2nd visit and 18.69 mm in 3rd visit. The improvement was notable but that was not statistically significant. Measured mean CT was 5.20 mm, 6.04 mm and 8.60 mm in 1st, 2nd, and 3rd visit respectively. The mean P/C ratio was 7.64 in 1st visit, 5.02 in 2nd visit and 2.97 in 3rd visit. At 3rd visit, CT value improved and P/C ratio decreased significantly. Mean pelvic volume at baseline was 28.28 mm and after diuretics 29.03 mm on first visit that was statistically significant. Like that 2nd and 3rd visit also significant. Conclusion: Improvement of postoperative pelvic volume, APPD , CT and P/C ratio can provide objective guidance to surgeons to decide who need early follow-up, and can help for early intervention after pyeloplasty. Sir Salimullah Med Coll J 2024; 32: 65-69

Introduction: The kidneys are divided into two main regions: the cortex and medulla. The cortex contains renal corpuscles, convoluted and straight tubules, collecting ducts, and vasculature. Medullary rays, composed of straight tubules and collecting ducts, extend into the cortex from the medulla. Kidney stones are mineral deposits formed in the renal pelvis or on the renal papillae, composed of both crystalline and organic substances. They develop when urine becomes supersaturated with minerals. Most stones are made of calcium oxalate, often forming on calcium phosphate deposits known as Randall’s plaques. Kidney stones are common, with a prevalence of up to 14.8% and a recurrence rate of 50% within five years. Risk factors include low fluid intake, obesity, diabetes, hypertension, and metabolic syndrome. Stones can also lead to chronic kidney disease and hypertension. In areas near the Sharr Mountains, water quality may contribute to nephrolithiasis (kidney stone disease), also known as nephrotic calculi. Contaminated water can increase the risk of kidney and bladder diseases, including cancers. The type and severity of toxins depend on the water source and treatment. Aim of the Study: This study investigates the prevalence of nephrotic calculi in the Polog Valley, comparing populations from villages near the Sharr Mountains, along the Tetovo-Gostivar highway, near Mali i Thatë, and in the cities of Tetovo and Gostivar. It aims to assess the potential link between drinking water quality and kidney stone formation by comparing water sources from these regions. Materials and Method: The study includes 80 patients: 30 from the Sharr Mountain area, 10 from Tetovo-Gostivar highway villages, 30 from Mali i Thatë, and 10 in a control group. Patients will be examined using renal ultrasonography and CT-urography to identify and analyze kidney stones. The research will be conducted at the Urology Department of Tetovo Clinical Hospital. Results: The findings will reveal the prevalence of nephrotic calculi in Polog and their association with local water sources. The study will also assess water quality and explore possible endemic patterns, particularly between the Sharr and Mali i Thatë regions. Conclusion: The study will provide a comprehensive overview of kidney stone prevalence in Polog, the impact of drinking water quality, and the underlying causes of nephrolithiasis. The results can inform preventive measures and support early diagnosis and intervention, benefiting nephrology, urology, and public health efforts in the region.