Hasil untuk "Diseases of the genitourinary system. Urology"

Javier Martínez de Victoria Carazo, Haylen Marin, Francisco Javier De la Hera Fernández et al.

Fabry disease (FD) is an X-linked genetic disorder characterized by alpha-galactosidase deficiency, leading to the accumulation of globotriaosylceramide. This accumulation causes multi-organ dysfunction, with renal involvement being particularly significant. Recently, the immunological relationship of this disease has been investigated, including the inactivation of enzyme therapies by antibodies and systemic inflammation. We present the case of a 15-year-old patient with FD and ANCA-associated vasculitis (AAV). A narrative review was conducted by searching PubMed with the terms “Fabry disease” AND “vasculitis” AND “glomerulonephritis,” identifying 9 relevant articles. These cases were compared with the current one, emphasizing pathophysiological aspects. 75% of patients had fever, 50% had peripheral edema, and 25% had otorhinolaryngological involvement. Pauci-immune necrosis was found in 75%. Therapeutically, all cases were treated with plasmapheresis, 75% with cyclophosphamide, and only one case required hemodialysis during follow-up. The association of FD with vasculitis is rare, with only five cases, only one with positive ANCA. The role of the immune system in FD, still not fully understood, seems to contribute significantly to pathogenesis and complications. This case highlights the need for further research on the immunological role in FD and its relationship with vasculitis and other autoimmune diseases. Resumen: La enfermedad de Fabry (EF) es un trastorno genético ligado al cromosoma X caracterizada por deficiencia de alfa-galactosidasa, que conduce a la acumulación de globotriaosilceramida. Dicha acumulación causa una disfunción multiorgánica, siendo particularmente significativo el compromiso renal. Recientemente, se ha investigado la relación inmunológica de esta enfermedad, incluyendo la inactivación de las terapias enzimáticas por parte de los anticuerpos y la inflamación sistémica. Presentamos el caso de un paciente de 15 años con EF y vasculitis asociada a ANCA (VAA). Se realizó una revisión narrativa mediante la búsqueda en PubMed de los términos «Fabry disease» Y «vasculitis» Y «glomerulonephritis», identificando 9 artículos relevantes. Dichos casos fueron comparados con el actual, destacando los aspectos patofisiológicos. El 75% de los pacientes tuvo fiebre, el 50% edema periférico y el 25% compromiso otorrinolaringológico. Se encontró necrosis pauciinmune en el 75% de los casos. Terapéuticamente, todos los casos fueron tratados con plasmaféresis, el 75% con ciclofosfamida, y solo un caso requirió hemodiálisis durante el seguimiento. La asociación de la EF con vasculitis es rara, encontrándose solo 5 casos, siendo únicamente uno positivo a ANCA. El rol del sistema inmunológico en la EF, que aún no se comprende plenamente, parece contribuir significativamente a su patogenia y complicaciones. Este caso destaca la necesidad de investigación futura sobre el rol inmunológico en la EF y su relación con vasculitis y otras enfermedades autoinmunes.

Angela Rivera, Quitian Hoover, Fabiola Andrea Aldana et al.

Wiwat Chancharoenthana, Asada Leelahavanichkul, Claudio Ronco et al.

Tropical nephrology refers to kidney diseases commonly found in tropical and subtropical regions. These conditions, such as malaria-associated acute kidney injury, leptospirosis with renal involvement, schistosomiasis-related nephropathy, HIV-associated nephropathy, and dengue-associated kidney injury, are becoming increasingly relevant to clinicians worldwide due to global travel, climate change, and migration. However, their coverage in foundational English-language medical education resources may be inadequate, potentially impairing clinicians’ ability to manage these conditions effectively. To assess the extent of this gap, a structured content review was conducted across 12 widely used English-language educational materials, including general internal medicine and nephrology textbooks, tropical medicine references, and digital platforms like UpToDate. Each resource was evaluated for its coverage of five conditions across six educational domains (epidemiology, pathophysiology, clinical presentation, diagnosis, management, and prevention) using a modified DISCERN tool with a 5-point scale. The review found that overall coverage was limited, with a mean DISCERN score of 2.2 out of 5. Tropical medicine textbooks (mean 3.2) and digital platforms (mean 2.8) scored higher than general internal medicine texts (mean 1.7). Diagnosis and prevention were the least covered domains, while HIV-associated nephropathy received the most attention. These findings highlight significant gaps in core English-language educational materials that may contribute to challenges in how clinician manage these diseases. There is a clear need for improved and updated medical curricula to support better recognition, diagnosis, and treatment of tropical kidney diseases in an increasingly interconnected world.

A. Abdel Karim, A. Abulfotooh, A. Moussa et al.

Yani Wang, Lihua Liao, Qian Guo et al.

Background Studies have shown that in hypertensive patients, chronic kidney disease (CKD) is associated with a poor prognosis. Inflammation is a highly important factor in the progression of CKD. Detecting systemic inflammation and intervening promptly in patients with hypertension may help reduce the risk of CKD. The systemic inflammatory response index (SIRI) is a tool used to measure the systemic inflammatory response, but its relationship with CKD in patients with hypertension remains uncertain.Methods We utilized data from the National Health and Nutrition Examination Survey (NHANES), which was conducted between 1999 and 2018. The analysis included a total of 20,243 participants, categorized into three groups based on SIRI tertiles. Logistic regression analysis and restricted cubic spline analysis were used to examine the relationship between the SIRI and CKD.Results In patients with hypertension, there was a notable relationship between the SIRI and the odds of developing CKD. After full adjustment, there was a 31% greater likelihood of developing CKD associated with each incremental increase of 1 unit in the SIRI (OR: 1.31, 95% CI: 1.24–1.39, p < 0.001). The groups with greater SIRI values exhibited greater odds of developing CKD than did the T1 group (T2: OR: 1.20, 95% CI: 1.04–1.38, p = 0.015; T3: OR: 1.69, 95% CI: 1.47–1.94, p < 0.001).Conclusion A high SIRI is associated with an increased risk of CKD in hypertensive patients. The greater the SIRI is, the greater the risk of CKD in hypertensive patients.

Francini Porcher Andrade, Sheila Borges, César Alencar da Silva Filho et al.

Abstract Background Respiratory sarcopenia is characterized by the weakness of respiratory muscles associated with sarcopenia due to aging or systemic diseases such as chronic kidney disease (CKD). Patients with CKD undergoing dialysis are particularly susceptible to respiratory muscle weakness caused by factors such as fluid overload and electrolyte imbalance. This weakness not only affects ventilation but also impairs oxygen uptake and delivery to muscle tissue, potentially leading to severe sarcopenia. Thus, the objective of this study is to conduct a respiratory sarcopenia screening in patients with CKD undergoing haemodialysis (HD) and peritoneal dialysis (PD). Methods This is an observational, cross-sectional and multicentre study conducted between March 2023 and March 2025. The study was approved by the Research Ethics Committee at two centres. Sarcopenia diagnosis is determined based on low handgrip strength and amount of appendicular skeletal muscle mass, assessed through bioelectrical impedance analysis. Respiratory sarcopenia is diagnosed in patients with sarcopenia who have low inspiratory muscle strength, evaluated through a manovacuometry test. The severity of sarcopenia and respiratory sarcopenia is defined, respectively, by low physical performance (measured using the Short Physical Performance Battery and Timed-Up and Go test) and pulmonary performance (measured through spirometry). Thus, this study will include 81 patients undergoing dialysis (41 on HD and 40 on PD) from three participating centres. Discussion The literature has been focused on respiratory function in CKD; however, the relationship with sarcopenia remains understudied. We believe that, similar to appendicular skeleton muscles, the axial skeleton muscles are also likely to weaken with the presence of chronic disease, such as CKD.

Zhikang Yu, Bo Zhu, Qiuqiu Qiu et al.

Grace Helene Wegrzyn, Melissa Kilianek, Soumya Yallapragada et al.

Yung-Hao Liu, Ching-Heng Yen, Yi-Sheng Tai et al.

This review provides a thorough overview of contemporary treatment strategies for complex renal calculi, including large-volume stones, stones with increased hardness and greater number, or stones with abnormal anatomy. The development of tailored treatment plans for stone removal is essential for treatment success. A literature search was conducted on PubMed using the Keyword “complex renal calculi” along with “percutaneous nephrolithotomy (PCNL),” “retrograde intrarenal surgery (RIRS),” “endoscopic combined intrarenal surgery (ECIRS),” “stone free rate,” and “complications.” Based on the findings, the use of “minimally invasive PCNL,” “multiple-tract PCNL,” “staged RIRS,” and “ECIRS” is proposed in addition to the traditional PCNL suggested using the European Association of Urology guidelines. Renal calculi in patients with solitary kidneys or who underwent kidney transplants are considered to be complex, and treatment options that allow preservation of their remaining renal function should be considered.

Mengjun Liang, Shiyan Zhu, Shaoqin Liu et al.

Abstract Background Gaucher disease (GD) is a rare autosomal recessive inherited, lysosomal storage disoder that involves liver, spleen, lung, bone, bone marrow even central nervous. However, GD associated membranoproliferative glomerulonephritis (MPGN) is seldom reported. Case presentation Here we described a case of 35-year-old man suffering from GD with hepatosplenomegaly, ascites, bone destruction, myelofibrosis and MPGN. Renal biopsy revealed MPGN and Gaucher cells presented in the glomeruli capillaries. β-glucosidase activity was 1.95nmol/1 h/mg and gene detection demonstrated that one homozygous pathogenic variant Leu483Pro in GBA. He received the treatment of oral prednisone and mycophenolate mofetil and his ascites and renal outcomes had been significantly improved. Conclusions Therapy of prednisone and mycophenolate mofetil may be an optional choice for patients with Gaucher disease who have no opportunity to use enzyme treatment.

Korman HJ, Baunoch D, Luke N et al.

Howard J Korman,1 David Baunoch,2 Natalie Luke,2 Dakun Wang,3 Xihua Zhao,4 Michael Levin,1 David L Wenzler,1 Mohit Mathur5 1Comprehensive Urology Division, Michigan Healthcare Professionals, Royal Oak, MI, USA; 2Department of Research and Development, Pathnostics, Irvine, CA, USA; 3Department of Writing, Stat4Ward, Pittsburgh, PA, USA; 4Department of Statistical Analysis, Stat4Ward, Pittsburgh, PA, USA; 5Department of Medical Affairs, Pathnostics, Irvine, CA, USACorrespondence: Mohit Mathur, Pathnostics, 15545 Sand Canyon Suite 100, Irvine, CA, 92618, USA, Email mmathur@pathnostics.comPurpose: Complicated UTIs (cUTIs) cause significant morbidity and healthcare resource utilization and cost. Standard urine culture has limitations in detecting polymicrobial and non-E. coli infections, resulting in the under-diagnosis and under-treatment of cUTIs. In this study, patient-reported outcomes were compared between treated and untreated patients when an advanced diagnostic test combining multiplex-polymerase chain reaction (M-PCR) with a pooled antibiotic susceptibility method (P-AST) was incorporated into the patients’ clinical management.Methods: Patients who had symptoms typical of cUTI and positive M-PCR/P-AST test results were recruited from urology clinics. Symptom reduction and clinical cure rates were measured from day 0 through day 14 using the American English Acute Cystitis Symptom Score (ACSS) Questionnaire. Clinical cure was defined based on the sum of the scores of four US Food and Drug Administration (FDA) symptoms and the absence of visible blood in the urine.Results: Of 264 patients with suspected cUTI, 146 (55.4%) had exclusively non-E. coli infections (115 treated and 31 untreated) and 190 (72%) had polymicrobial infections (162 treated and 28 untreated). Treated patients exhibited greater symptom reduction compared to untreated ones on day 14 for those with exclusively non-E. coli organisms (3.18 vs 1.64, p = 0.006) and polymicrobial infections (3.52 vs 1.41, p = 0.002), respectively. A higher percentage of treated patients than of untreated patients achieved clinical cure for polymicrobial infections on day 14 (58.7% vs 36.4%, p = 0.049).Conclusion: Patients with cUTIs treated based on the M-PCR/P-AST diagnostic test had significantly improved symptom reduction and clinical cure rates compared to untreated patients among those with non-E. coli or polymicrobial infections.Keywords: urinary tract infection, complicated urinary tract infection, antibiotic, clinical outcome, diagnostic testing, polymerase chain reaction

Alexander I. Mosa, Don Watts, Navdeep Tangri

Background: Risk prediction tools are important in chronic disease management, but their implementation into clinical workflow is often limited by lack of electronic health record (EHR)-linked solutions. Objective: To implement the Khure Health (KH) clinical decision support platform with an artificial intelligence (AI)-enabled algorithm for chronic kidney disease (CKD) risk detection in 201 primary care provider practices across Ontario. Design: Multi-practice quality improvement study. Setting: The study was conducted in Ontario, Canada. Participants: 201 primary care practices. Measurements: Per-practice CKD risk stratification and clinician action. Methods: Data for estimated glomerular filtration rate (eGFR), albuminuria, demographics, and comorbid conditions were extracted from the EHR using KH’s natural language processing (NLP) algorithms. Patients already on dialysis, visiting a nephrologist, older than 85, or already on a sodium-glucose cotransporter 2 inhibitor (SGLT2i) were excluded. The remaining individuals were risk stratified using the kidney failure risk equation, presence or absence of cardiovascular disease (CVD), or other comorbid conditions. A dashboard with disease-specific educational information and links to the EHRs of the identified patients was created. Results: We screened 361 299 individuals and identified 8194 patients with CKD Stage 3 at risk for progression or cardiovascular events. A total of 620 individuals were at high risk for CKD progression or CVD, and 2592 were at intermediate risk. A total of 2010 individuals (10 patients per practice) at high or moderate risk were selected for a chart audit, and appropriate additional testing (repeat eGFR or albuminuria) or prescription of disease-modifying therapy occurred in 24.32% of these patients. Limitations: Data on comorbidities, medications, or demographic variables are not available for presentation or statistical analysis due to privacy legislation and primary care provider (PCP) custodianship over EHR data. Conclusion: An AI-enabled EHR clinical decision support application that can detect and risk stratify patients with CKD can enable improved laboratory testing and management. Larger trials of clinical decision support and practice audit applications will be needed to impact CKD management nationally.

Jose Gabriel Solis, Guillermo Flores Padilla, José Ramón Paniagua Sierra

Contexto: la hiponatremia posoperatoria es una complicación frecuente que se encuentra hasta en el 4?% de los pacientes sometidos a cirugía y que además es un factor independiente de mortalidad intrahospitalaria. Hasta ahora, los estudios se enfocan en las primeras horas posteriores a la cirugía, existiendo poca literatura que abarque hasta el periodo posoperatorio tardío. Objetivo: evaluar la frecuencia y las características de hiponatremia en la primera semana posoperatoria. Metodología: se incluyeron pacientes sometidos a cirugía mayor durante un periodo de 18 meses. Se determinó el nivel de sodio a las 24 horas, al tercer, quinto y séptimo día del procedimiento. Se clasificó de acuerdo con el tipo de cirugía realizada y se documentó la presencia de datos clínicos y desenlaces de los pacientes. Resultados: 280 pacientes fueron estudiados, de los cuales 20 (7,1?%) desarrollaron hiponatremia durante el primer día posoperatorio, 34 (12,1?%) en el tercero, 30 (10,7?%) en el quinto día y 31 (11?%) en el séptimo día. En el primer día posoperatorio, los pacientes sometidos a cirugías urológicas y gastrointestinales desarrollaron hiponatremia con mayor frecuencia. Ninguno de los pacientes desarrolló complicaciones graves y no hubo relación entre la edad, el género o el tipo de soluciones y el desarrollo de hiponatremia. Conclusiones: la hiponatremia es una complicación frecuente de varios tipos de procedimientos quirúrgicos que puede desarrollarse en los primeros siete días posoperatorios.

A.L. Pastore, Y. Al Salhi, A. Fuschi et al.

Chueh lin Hsu, Leszek Niepolski

End-stage renal disease is the last stage of chronic kidney disease and affects more than 2 million patients worldwide. The infection-related hospitalization is an important cause of excess morbidity and mortality in this group of patients. Yersinia enterocolitica (YE) is one of the bacteria that hemodialysis (HD) patients can occasionally be infected with. The most common symptoms are fever and mild diarrhea, which is self-limited. However, in HD patients, especially in iron overloaded cases, severe watery or bloody diarrhea can occur. The consumption of undercooked food by patients should sensitize the physician to the possibility of YE infection. Clinically, YE is difficult to diagnose due to nonspecific symptoms and the relatively low prevalence of yersiniosis, compared to other causative pathogens in dialysis patients. There is little information about yersiniosis in HD patients. For this reason, this review aims to summarize the current knowledge on YE infection in HD patients, with the main objective of expounding the problems in identifying, diagnosing, and treating yersiniosis in HD patients.

James A. Tumlin, Prabir Roy-Chaudhury, Bruce A. Koplan et al.

Abstract Background Hemodialysis patients have high rates of sudden death, but relationships between serum electrolytes, the dialysis prescription, and intra-dialytic shifts in fluid and electrolyte with arrhythmia are uncertain. Methods We analyzed sixty-six hemodialysis patients who underwent loop recorder implantation with continuous electrocardiographic monitoring, weekly to bi-weekly testing of pre- and post-dialysis electrolytes, and detailed capture of dialysis prescription and flow sheet data for 6 months. The incidence rate ratio (IRR) of reviewer confirmed arrhythmias (RCA) during dialysis through 8 h after dialysis and associations with serum chemistries and dialytic parameters were assessed using adjusted, negative-binomial regression. Results Among 66 individuals with a mean age of 56 years, 12,480 events were detected in 64 (97%) patients. RCA nadired 12–24 h after dialysis and increased during the final 12 h of the inter-dialytic interval through the first 8 h after dialysis. Higher pre-dialysis serum magnesium concentration was associated with lower incidence rate ratio for arrythmia (IRR per 1 mg/dL increase 0.49, 95% CI; 0.25, 0.94), as was dialysate calcium concentration > 2.5 mEq/L vs. 2.5 mEq/L (IRR 0.52, 95% CI: 0.39, 0.70). Neither intradialytic serum potassium nor weight change were significantly associated with RCA rate. However, there was effect modification such that arrhythmia rate was maximal with concurrently high intradialytic volume and potassium removal (Pinteraction = 0.01). Conclusions Intra and post-dialytic arrhythmias are common in hemodialysis. Additional studies designed to further elucidate whether modification of the serum magnesium concentration, dialysate calcium concentration, and the extent of intradialytic potassium and fluid removal reduces the risk of per-dialytic arrhythmia are warranted. Trial registration Clinicaltrials.gov NCT01779856. Prospectively registered on January 22, 2013.

Andrea Gallioli, Elisa De Lorenzis, Luca Boeri et al.

Abstract Background Computed Tomography (CT) is considered the gold-standard for the pre-operative evaluation of urolithiasis. However, no Hounsfield (HU) variable capable of differentiating stone types has been clearly identified. The aim of this study is to assess the predictive value of HU parameters on CT for determining stone composition and outcomes in percutaneous nephrolithotomy (PCNL). Methods Seventy seven consecutive cases of PCNL between 2011 and 2016 were divided into 4 groups: 40 (52%) calcium, 26 (34%) uric acid, 5 (6%) struvite and 6 (8%) cystine stones. All images were reviewed by a single urologist using abdomen/bone windows to evaluate: stone volume, core (HUC), periphery HU and their absolute difference. HU density (HUD) was defined as the ratio between mean HU and the stone’s largest diameter. ROC curves assessed the predictive power of HU for determining stone composition/stone-free rate (SFR). Results No differences were found based on the viewing window (abdomen vs bone). Struvite stones had values halfway between hyperdense (calcium) and low-density (cystine/uric acid) calculi for all parameters except HUD, which was the lowest. All HU variables for medium-high density stones were greater than low-density stones (p < 0.001). HUC differentiated the two groups (cut-off 825 HU; specificity 90.6%, sensitivity 88.9%). HUD distinguished calcium from struvite (mean ± SD 51 ± 16 and 28 ± 12 respectively; p = 0.02) with high sensitivity (82.5%) and specificity (80%) at a cut-off of 35 HU/mm. Multivariate analysis revealed HUD ≥ 38.5 HU/mm to be an independent predictor of SFR (OR = 3.1, p = 0.03). No relationship was found between HU values and complication rate. Conclusions HU parameters help predict stone composition to select patients for oral chemolysis. HUD is an independent predictor of residual fragments after PCNL and may be fundamental to categorize it, driving the imaging choice at follow-up.

Yi-Zhong Chen, Pai-Kai Chiang, Marcelo Chen et al.

Yen-Chuan Ou, M.D., Ph.D., Chun-Kuang Yang, M.D., Siu-Wan Hung, M.D.

Jun Hyun Han, Yong Seong Lee, Hae Jong Kim et al.

In this study, we evaluated genetic variants of the androgen metabolism genes CYP17A1, CYP3A4, and CYP3A43 to determine whether they play a role in the development of prostate cancer (PCa) in Korean men. The study population included 240 pathologically diagnosed cases of PCa and 223 age-matched controls. Among the 789 single-nucleotide polymorphism (SNP) database variants detected, 129 were reported in two Asian groups (Han Chinese and Japanese) in the HapMap database. Only 21 polymorphisms of CYP17A1, CYP3A4, and CYP3A43 were selected based on linkage disequilibrium in Asians (r2 = 1), locations (SNPs in exons were preferred), and amino acid changes and were assessed. In addition, we performed haplotype analysis for the 21 SNPs in CYP17A1, CYP3A4, and CYP3A43 genes. To determine the association between genotype and haplotype distributions of patients and controls, logistic analyses were carried out, controlling for age. Twelve sequence variants and five major haplotypes were identified in CYP17A1. Five sequence variants and two major haplotypes were identified in CYP3A4. Four sequence variants and four major haplotypes were observed in CYP3A43. CYP17A1 haplotype-2 (Ht-2) (odds ratio [OR], 1.51; 95% confidence interval [CI], 1.04-2.18) was associated with PCa susceptibility. CYP3A4 Ht-2 (OR: 1.87; 95% CI: 1.02-3.43) was associated with PCa metastatic potential according to tumor stage. rs17115149 (OR: 1.96; 95% CI: 1.04-3.68) and CYP17A1 Ht-4 (OR: 2.01; 95% CI: 1.07-4.11) showed a significant association with histologic aggressiveness according to Gleason score. Genetic variants of CYP17A1 and CYP3A4 may play a role in the development of PCa in Korean men.