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1.
Urolithiasis ; 52(1): 95, 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38896137

RESUMO

To evaluate the impact of frailty on perioperative outcomes of older patients undergoing PCNL, utilizing the US Nationwide Inpatient Sample (NIS) database. Data of hospitalized patients ≥ 60 years who received PCNL were extracted from the 2010 to 2020 NIS database, and included demographics, clinical, and hospital-related information. Patients were assigned to low (< 5), medium (5-15), and high frailty risk (> 15) groups based on the hospital frailty risk score (HFRS). Associations between frailty risk and perioperative outcomes including total hospital cost were determined using population-weighted linear and logistic regression analyses. Data of 30,829 hospitalized patients were analyzed (mean age 72.5 years; 55% male; 78% white). Multivariable analyses revealed that compared to low frailty risk, increased frailty risk was significantly associated with elevated in-hospital mortality (adjusted odds ratio (aOR) = 10.70, 95% confidence interval (CI): 6.38-18.62), higher incidence of unfavorable discharge (aOR = 5.09, 95% CI: 4.43-5.86), prolonged hospital length of stay (LOS; aOR = 7.67, 95% CI: 6.38-9.22), increased transfusion risk (aOR = 8.05, 95% CI: 6.55-9.90), increased total hospital costs (adjusted Beta = 37.61, 95% CI: 36.39-38.83), and greater risk of complications (aOR = 8.52, 95% CI: 7.69-9.45). Frailty is a significant prognostic indicator of adverse perioperative outcomes in older patients undergoing PCNL, underscoring importance of recognizing and managing frailty in older patients.


Assuntos
Fragilidade , Mortalidade Hospitalar , Tempo de Internação , Nefrolitotomia Percutânea , Complicações Pós-Operatórias , Humanos , Masculino , Feminino , Idoso , Estados Unidos/epidemiologia , Nefrolitotomia Percutânea/efeitos adversos , Nefrolitotomia Percutânea/estatística & dados numéricos , Fragilidade/complicações , Fragilidade/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Tempo de Internação/estatística & dados numéricos , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Custos Hospitalares/estatística & dados numéricos , Cálculos Renais/cirurgia , Cálculos Renais/complicações , Resultado do Tratamento , Medição de Risco , Bases de Dados Factuais , Pacientes Internados/estatística & dados numéricos , Estudos Retrospectivos
3.
J Endourol ; 38(6): 637-641, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38613815

RESUMO

Purpose: This study investigates gender-based disparities in health-related quality of life (HRQOL) outcomes among kidney stone patients and explores potential contributing factors. Methods: A retrospective review of medical records at the University of Rochester Medical Center was conducted on 2199 new urolithiasis patients who completed the Wisconsin Stone Quality of Life Questionnaire (WISQOL) standardized on a 0 to 100 scale. Demographic and clinical data were collected. Statistical analyses included univariate tests, chi-squared tests, and multivariate linear regression. Results: Of the 2199 kidney stone patients, 1085 (49.3%) were women. Women reported significantly lower quality of life (QoL) scores compared with men (71.6 vs 80.7; p < 0.001), and this persisted across all domains, including social impact (80.2 vs 86.9; p < 0.001), emotional impact (67.3 vs 77.1; p < 0.001), disease impact (67.3 vs 77.1; p < 0.001), and impact vitality (62.6 vs 72.9; p < 0.001). Female gender was identified as an independent predictor of diminished QoL scores, along with younger age, symptomatic status, number of surgeries, and presence of a psychosocial comorbidity. Conclusions: Our findings suggest that women with kidney stones experience lower HRQOL compared with men, even accounting for clinical and demographic factors. Although this study provides preliminary insights, additional research is needed to validate these findings in broader and more varied populations.


Assuntos
Cálculos Renais , Qualidade de Vida , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Fatores Sexuais , Estudos Retrospectivos , Idoso , Inquéritos e Questionários , Caracteres Sexuais
4.
World J Urol ; 42(1): 143, 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38478076

RESUMO

PURPOSE: To present the initial prospective clinical assessment of the ILY® robotic ureteroscopy manipulator platform, focusing on its safety and effectiveness. METHODS AND MATERIALS: Data gathered from 31 kidney units which underwent elective robotic flexible ureteroscopy (FURS) for renal stone management utilizing the ILY® robotic system. Patient demographics, stone characteristics, surgical durations, perioperative and post-operative complications, and follow-up parameters were collected. Our primary outcome was evaluating the efficacy and safety of the ILY® robotic ureteroscopy for treating kidney stones. Therefore, we analyzed complication rates, surgical durations, and the stone-free rate during follow-up. RESULTS: Our cohort consisted of 29 patients, presenting with 45 stones with a median volume of 736.22 mm3. The median operation time was 85 min, accompanied by 3 min for robot draping, 3.5 min for robot docking, 48 min of console operation, and lasing time of 36.75 min. Post operative stay for all patients was 1 day, while complications were observed in 9.68% of cases. Notably, all complications were classified as CVD (Clavien-Dindo) class 1 due to pain requiring emergency department visit. The stone-free rate achieved was 93.55%, and none of the patient required reoperation for the treated stone. CONCLUSION: In the first prospective clinical experience of the ILY® robotic FURS, we demonstrated its efficacy and safety. To further investigate its clinical practical value, additional investigations are warranted, including direct comparative analyses with manual flexible ureteroscopy techniques.


Assuntos
Cálculos Renais , Litotripsia a Laser , Procedimentos Cirúrgicos Robóticos , Robótica , Humanos , Ureteroscopia/métodos , Estudos Prospectivos , Litotripsia a Laser/métodos , Resultado do Tratamento , Cálculos Renais/terapia , Estudos Retrospectivos
5.
Urol Pract ; 11(3): 462-468, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38526412

RESUMO

INTRODUCTION: The Karl Storz FLEX-XC1 is a novel single-use flexible ureteroscope that uses the same videographics platform as its reusable digital counterpart. We evaluated the technical performance of the FLEX-XC1 in its initial clinical use. METHODS: We reviewed a series of consecutive ureteroscopy procedures performed by 2 endourologists using the FLEX-XC1 for indications for which we typically use a single-use device: total stone burden > 15 mm or > 10 mm in the lower pole, anticipated case duration > 60 minutes, bilateral procedure, or upper tract urothelial cancer procedures. We assessed device tip deflection, intraoperative mechanical failure, and clinical outcomes for each case. Surgeons rated visual clarity, image quality, and maneuverability on a 1 to 5 Likert scale. RESULTS: Of 29 procedures using FLEX-XC1, 27 (93%) were successfully completed. Preoperative upward deflection was < 270° in 6 (21%) cases, and downward deflection was < 270° in 9 (31%) cases. Three types of intraoperative malfunctions occurred: rotational twisting of deflectable tip (4 cases, 13%), device not advancing through distal ureter (1 case, 3%), and working channel not accommodating a 365-µm laser (1 case, 3%). Visual clarity, image quality, and maneuverability were rated as 5 "very good" or 4 "good" in 100%, 100%, and 97% of cases, respectively. No device-specific or general 30-day complications were observed. CONCLUSIONS: The FLEX-XC1 showed comparable image quality and maneuverability to reusable digital devices. We observed incomplete deflection in up to 31% of cases and mechanical failure in 2 cases. The FLEX-XC1 may be advantageous in prolonged cases where maintaining visual clarity is paramount.


Assuntos
Cálculos Renais , Ureteroscópios , Humanos , Desenho de Equipamento , Ureteroscopia , Cálculos Renais/cirurgia
6.
Actas Urol Esp (Engl Ed) ; 48(1): 25-41, 2024.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37364768

RESUMO

INTRODUCTION: Kidney stone disease (KSD) is a common urological condition that often requires long-term care. Mobile health (mHealth) and eHealth technologies have the potential to enhance chronic disease management and behavioral change. To assess opportunities to apply these tools to improve KSD treatment and prevention, we aimed to assess current evidence on the use, benefits, and limitations of mHealth and eHealth in KSD. METHODS: We performed a systematic review of primary research studies of mHealth and eHealth in the evaluation and management of KSD. Two independent researchers screened citations by title and abstract for relevance, then full-text review was performed for descriptive summary of the studies. RESULTS: A total of 37 articles were included for analysis. Primary domains of evidence included: 1) "smart" water bottles and mobile-device apps for tracking fluid consumption, which showed increased intake in most studies; 2) ureteral stent tracking platforms, which improved the rate of long-term retained stents; 3) virtual stone clinics, which have been suggested to increase access, lower costs, and have satisfactory outcomes; 4) smartphone-based endoscopy platforms, which offered cost-effective image quality in resource-limited settings; 5) patient information about KSD online, which was typically characterized as poor quality and/or accuracy, particularly on YouTube. Most studies were proof-of-concept or single-arm intervention designs, with limited assessment of effectiveness or long-term clinical outcomes. CONCLUSIONS: Mobile and eHealth technologies have significant real-world applications to KSD prevention, intervention, and patient education. A lack of rigorous effectiveness studies currently limits evidence-based conclusions and incorporation in clinical guidelines.


Assuntos
Cálculos Renais , Aplicativos Móveis , Telemedicina , Humanos , Smartphone , Atenção à Saúde
7.
Curr Opin Urol ; 34(2): 110-115, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37962372

RESUMO

PURPOSE OF REVIEW: Flexible ureteroscopy (fURS) has evolved into both diagnostic and therapeutic modalities. Our review discusses the cost-effectiveness of single use flexible ureteroscopes (su-fURS) and the use of these instruments in routine urological practice. RECENT FINDINGS: There are studies which support the use of su-fURS with an argument of both cost and clinical utility over reusable flexible ureteroscopes (ru-fURS). However, the cost may vary across countries, hence is difficult to compare the results based on the current literature. Perhaps therefore there is a role for hybrid strategy incorporating ru- and su-fURS, where su-fURS are employed in complex endourological cases with a high risk of scope damage or fracture to preserve ru-fURS, with the ability to maintain clinical activity in such an event. SUMMARY: While there seems to be some cost advantages with su-fURS with reduced sterilization and maintenance costs, the data supporting it is sparse and limited. This choice of scope would depend on the durability of ru-fURS, procedural volumes, limited availability of sterilization units in some centers and potential risk of infectious complications. It is time that cost-benefit analysis is conducted with defined outcomes for a given healthcare set-up to help with the decision making on the type of scope that best serves their needs.


Assuntos
Cálculos Renais , Ureteroscópios , Humanos , Ureteroscopia/métodos , Análise de Custo-Efetividade , Análise Custo-Benefício , Cálculos Renais/terapia
9.
Urol Pract ; 11(1): 180-184, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37902693

RESUMO

INTRODUCTION: This study aimed to investigate the association between social vulnerability, as measured by the Centers for Disease Control and Prevention's Social Vulnerability Index (SVI), and the quality of life (QoL) of kidney stone patients using the validated Wisconsin Stone Quality of Life Questionnaire (WISQOL). METHODS: A retrospective analysis was conducted on medical records of new urolithiasis patients who completed the WISQOL at the University of Rochester Medical Center kidney stone clinic. The primary outcome was WISQOL score, which was measured across multiple domains. SVI was used to assess social vulnerability. Neighborhoods with high SVI were defined by a threshold greater than or equal to the 75th percentile nationally. Demographic and clinical data were collected. Statistical analyses, including univariate tests and multivariate linear regression, were performed to evaluate the relationships between social vulnerability and disease-specific QoL. RESULTS: A total of 1718 patients were included in the study. One hundred five subjects (6.1%) were from neighborhoods of high social vulnerability. Patients residing in neighborhoods with high social vulnerability (SVI quartile) reported significantly lower QoL scores (69.1 vs 77.2; P = .001) and this persisted across all domains, including social impact (32.6 vs 35.1; P = .002), emotional impact (25.2 vs 27.5; P = .006), disease impact (28.5 vs 31.4; P = .001), and vitality (10.3 vs 11.2; P = .015). Younger age, female sex, and higher number of comorbidities were identified as independent predictors of lower QoL scores. However, non-White race and Latinx ethnicity did not exhibit a significant association with QoL scores. CONCLUSIONS: These findings highlight the negative impact of high social vulnerability on QoL, emphasizing the importance of considering socioeconomic factors in patient care. These results emphasize the need for targeted interventions to support vulnerable populations. While this study offers initial insights, further research is essential to corroborate these outcomes across larger and more diverse populations.


Assuntos
Cálculos Renais , Urolitíase , Humanos , Feminino , Qualidade de Vida/psicologia , Estudos Retrospectivos , Vulnerabilidade Social , Cálculos Renais/psicologia
10.
Malays J Pathol ; 45(3): 333-352, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38155376

RESUMO

Urolithiasis is defined as a disease diagnosed by the presence of one or more stones in the urinary tract. It is one of the oldest and most widespread diseases known to man, their discovery and characterisation chronology began with the civilisation's history. This pathology has a multifactorial aetiology, very frequent worldwide with geographic and racial variation, their prevalence is increasing in lockstep with socioeconomic development. In fact, this disorder affects between 2 and 20% of the population, with an approximate recurrence rate of 30% to 50% in 5 years. Furthermore, calciumtype stones, which are composed of calcium oxalate (CaOx) alone or a mixture of CaOx and calcium phosphate are the most common, accounting for more than 80% of cases. The medical management of urolithiasis is done by medical treatments and/or by surgical intervention for the stones extraction by the techniques such as extracorporeal shock wave lithotripsy (ESWL), ureteroscopy (URS), percutaneous nephrolithotomy (PCNL) and open surgery. However, various therapies, including thiazide diuretics and alkaline citrate, are used in an attempt to prevent stones recurrence induced by hypercalciuria and hyperoxaluria, but the scientific evidence for their effectiveness is less convincing. On the other hand, endoscopic and ESWL methods have revolutionised the treatment of urinary lithiasis, but these costly methods, can cause acute kidney injury and decreased renal function, in addition, do not prevent the probability of new stone formation. The deepening of our knowledge on all points relating to this disease is a priority for specialists in order to find adequate solutions for this disease. This review provides an overview of urolithiasis, its history, epidemiology, clinical manifestation, diagnosis and treatment methods.


Assuntos
Cálculos Renais , Litotripsia , Urolitíase , Masculino , Humanos , Cálculos Renais/cirurgia , Oxalato de Cálcio , Urolitíase/epidemiologia , Urolitíase/etiologia , Urolitíase/terapia , Ureteroscopia , Litotripsia/métodos , Resultado do Tratamento
11.
BMC Nephrol ; 24(1): 319, 2023 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-37884879

RESUMO

BACKGROUND: Without effective intervention, primary hyperoxaluria type 1 (PH1) causes oxalate-induced kidney damage, leading to end-stage kidney disease and serious complications throughout the body. Although PH1 carries a heavy burden that impacts quality of life, literature on the experiences of those living with PH1 and caring for patients with PH1 is limited. This study aimed to describe the diagnostic journey in PH1 and characterize patients' and caregivers' self-reported experiences throughout the disease course. METHODS: This was an observational study involving in-depth, semi-structured telephone interviews. Dominant trends were assessed using constant comparative analysis to identify themes in interviewees' descriptions of their experiences. Individuals aged ≥ 12 years and caregivers of children aged 6-17 years with genetically confirmed PH1 were eligible. Informed consent/assent and ability to read and speak English were required. RESULTS: Interviewees (16 patients, 12 caregivers) reported a prolonged diagnostic journey due to low disease awareness, among other factors. Upon diagnosis, PH1 was frequently symptomatic, typically involving kidney stone-related symptoms but also potentially symptoms arising beyond the kidneys. PH1 most commonly led to worry and social impairment in adolescents, impaired physical function in adults, and a range of impacts on caregivers. In late-stage disease, dialysis was the most burdensome aspect of living with PH1 (due to time requirements, limitations from living with a catheter, etc.), and this burden was exacerbated by the COVID-19 pandemic. Benefits desired from PH1 management included reductions in laboratory measures of oxalate burden, kidney stone and urination frequency, and oxalate-related skin ulcers. CONCLUSIONS: PH1 greatly impacts patients' and caregivers' lives, primarily due to burdensome disease manifestations and associated emotional, physical, and practical impacts, as well as disease management challenges - particularly those related to dialysis in late-stage disease.


Assuntos
Hiperoxalúria Primária , Cálculos Renais , Criança , Adulto , Adolescente , Humanos , Pandemias , Qualidade de Vida , Diálise Renal , Hiperoxalúria Primária/diagnóstico , Hiperoxalúria Primária/complicações , Oxalatos , Avaliação de Resultados da Assistência ao Paciente
12.
Urolithiasis ; 51(1): 120, 2023 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-37801124

RESUMO

This study is aimed to determine whether postoperative low dose computed tomography (LDCT) imaging is necessary after percutaneous nephrolithotomy (PCNL), or the surgeon's intraoperative assessment of residual fragments (RF) is sufficient and avoidance of postoperative imaging with reduction of radiation exposure can be achieved. Data of all 610 patients who underwent PCNL in prone position in our institution from February 2009 to September 2020 was collected. Parameters such as age, gender, BMI, ASA-Classification, stone related parameters and the surgeon's assessment of stone-free status were analyzed. The LDCT performed postoperatively was compared to the intraoperative assessment of the surgeon regarding RF. The mean age of patients was 52.82 years; the mean BMI was 28.18 kg/m2. In 418 cases, the surgeon made a clear statement about the presence of RF and postoperative LDCT was carried out. The discrepancy between the two methods (surgeon´s assessment vs. LDCT) was significant at p < 0.0001. The sensitivity, specificity, positive and negative predictive value of the surgeon when assessing RF were 24.05%, 99.45%, 98.28% and 50%. Stone free rate (SFR) after primary PCNL was 45.57%. The overall SFR at discharge was 96.23%. Although the surgeon´s assessment of RF was reliable, postoperative LDCT imaging should still be performed if endoscopic stone clearance is suspected due to the high false negative rate and the low negative predictive value. The optimal timing of postoperative imaging following PCNL remains unclear.


Assuntos
Cálculos Renais , Nefrolitotomia Percutânea , Nefrostomia Percutânea , Humanos , Pessoa de Meia-Idade , Nefrolitotomia Percutânea/efeitos adversos , Nefrolitotomia Percutânea/métodos , Estudos Retrospectivos , Cálculos Renais/diagnóstico por imagem , Cálculos Renais/cirurgia , Cálculos Renais/etiologia , Tomografia Computadorizada por Raios X , Valor Preditivo dos Testes , Resultado do Tratamento , Nefrostomia Percutânea/efeitos adversos , Nefrostomia Percutânea/métodos
13.
Eur Urol Focus ; 9(6): 866-868, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37839975

RESUMO

Kidney stones are rising in incidence and prevalence worldwide. Given the temperature dependence of kidney stone presentations, climate change is projected to further increase the burden of disease for individuals and society. PATIENT SUMMARY: This mini-review reports current knowledge on climate change in relation to kidney stone disease. Kidney stones are more common in patients living in parts of the world that are hotter and more humid. Kidney stone problems are also more common after periods of high heat, which have a greater impact on men than on women. As temperatures rise with climate change, it is likely that the occurrence of kidney stones and the costs associated with their diagnosis and treatment will increase as well.


Assuntos
Mudança Climática , Cálculos Renais , Masculino , Humanos , Feminino , Cálculos Renais/epidemiologia , Cálculos Renais/etiologia , Cálculos Renais/diagnóstico , Temperatura Alta , Incidência , Custos e Análise de Custo
14.
Am J Emerg Med ; 74: 41-48, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37769445

RESUMO

OBJECTIVES: Non-contrast computed tomography (NCCT) is the gold standard for nephrolithiasis evaluation in the emergency department (ED). However, Choosing Wisely guidelines recommend against ordering NCCT for patients with suspected nephrolithiasis who are <50 years old with a history of kidney stones. Our primary objective was to estimate the national annual cost savings from using a point-of-care ultrasound (POCUS)-first approach for patients with suspected nephrolithiasis meeting Choosing Wisely criteria. Our secondary objectives were to estimate reductions in ED length of stay (LOS) and preventable radiation exposure. METHODS: We created a Monte Carlo simulation using available estimates for the frequency of ED visits for nephrolithiasis and eligibility for a POCUS-first approach. The study population included all ED patients diagnosed with nephrolithiasis. Based on 1000 trials of our simulation, we estimated national cost savings in averted advanced imaging from this strategy. We applied the same model to estimate the reduction in ED LOS and preventable radiation exposure. RESULTS: Using this model, we estimate a POCUS-first approach for evaluating nephrolithiasis meeting Choosing Wisely guidelines to save a mean (±SD) of $16.5 million (±$2.1 million) by avoiding 159,000 (±18,000) NCCT scans annually. This resulted in a national cumulative decrease of 166,000 (±165,000) annual bed-hours in ED LOS. Additionally, this resulted in a national cumulative reduction in radiation exposure of 1.9 million person-mSv, which could potentially prevent 232 (±81) excess cancer cases and 118 (±43) excess cancer deaths annually. CONCLUSION: If adopted widely, a POCUS-first approach for suspected nephrolithiasis in patients meeting Choosing Wisely criteria could yield significant national cost savings and a reduction in ED LOS and preventable radiation exposure. Further research is needed to explore the barriers to widespread adoption of this clinical workflow as well as the benefits of a POCUS-first approach in other patient populations.


Assuntos
Cálculos Renais , Neoplasias , Humanos , Pessoa de Meia-Idade , Tempo de Internação , Redução de Custos , Método de Monte Carlo , Serviço Hospitalar de Emergência , Ultrassonografia/métodos
15.
BMC Urol ; 23(1): 141, 2023 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-37635222

RESUMO

OBJECTIVE: To assess the routine serum and 24-hour urine tests proficiency in diagnosing the baseline metabolic abnormality of kidney stone formers. METHODS: This study analyzes the routine serum and 24-hour urine tests proficiency in diagnosing the baseline metabolic abnormality of kidney stone formers. The sensitivity and specificity, false positive, and negative results of the tests are extracted from diagnostic kits used in the laboratories of the target community. To accurately infer the results, a simulation based on 1000 people was used through 22 standard laboratory tests (Additional File 2), including calcium, oxalate, phosphate, uric acid, sulfate, potassium, sodium, citrate, and magnesium in 24-hour urine; and calcium, creatinine, Vit D, uric acid, and intact parathyroid hormone (PTH) in serum. The incremental cost-effectiveness ratio (ICER) was calculated and compared for each diagnostic test versus other diagnostic tests according to the incremental cost required for correct diagnoses of stone causes. RESULTS: Urinary uric acid, citrate, and serum potassium constitute the cost-effectiveness boundary curve in this study. This means that other diagnostic tests are not cost-effective compared to these three tests in terms of indexing at least one item of cost and effectiveness. The ICER index for each correct diagnosis with the urinary uric acid test was $ 1.25 per diagnosis, the most cost-effective test compared to serum potassium and urinary citrate. CONCLUSION: The simplified blood and 24-hour urine metabolic evaluation, including urinary uric acid, citrate, and serum potassium, constitute the cost-effectiveness boundary curve. The most cost-effective test was urinary uric acid measurement.


Assuntos
Cálcio , Cálculos Renais , Humanos , Análise Custo-Benefício , Ácido Úrico , Cálculos Renais/diagnóstico , Citratos , Ácido Cítrico
16.
Nutrients ; 15(9)2023 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-37432176

RESUMO

Apart from increased fluid intake, patients with kidney stone disease (KSD) due to renal phosphate wasting require specific metaphylaxis. NaPi2a, NaPi2c, and NHERF1 regulate plasma phosphate concentration by reabsorbing phosphate in proximal kidney tubules and have been found altered in monogenic hypophosphatemia with a risk of KSD. In this study, we aimed at assessing the combined genetic alterations impacting NaPi2a, NaPi2c, and NHERF1. Therefore, we screened our hereditary KSD registry for cases of oligo- and digenicity, conducted reverse phenotyping, and undertook functional studies. As a result, we identified three patients from two families with digenic alterations in NaPi2a, NaPi2c, and NHERF1. In family 1, the index patient, who presented with severe renal calcifications and a bone mineralization disorder, carried digenic alterations affecting both NaPi transporter 2a and 2c. Functional analysis confirmed an additive genetic effect. In family 2, the index patient presented with kidney function decline, distinct musculature-related symptoms, and intracellular ATP depletion. Genetically, this individual was found to harbor variants in both NaPi2c and NHERF1 pointing towards genetic interaction. In summary, digenicity and gene dosage are likely to impact the severity of renal phosphate wasting and should be taken into account in terms of metaphylaxis through phosphate substitution.


Assuntos
Doenças Ósseas , Calcinose , Cálculos Renais , Humanos , Cálculos Renais/genética , Calcificação Fisiológica , Dosagem de Genes
17.
Clin Exp Nephrol ; 27(11): 912-918, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37493903

RESUMO

BACKGROUND: Nephrolithiasis is more common in autosomal dominant polycystic kidney disease (ADPKD) than in the normal population. We aimed to investigate the anatomical and metabolic factors that may be associated with nephrolithiasis in patients with ADPKD METHODS: In this cross-sectional study, a total of 180 participants were included. Eighty-five patients with ADPKD [42 patients with nephrolithiasis (PKD N +) and 43 without nephrolithiasis (PKD N -)] were recruited. Forty-seven nephrolithiasis patients without ADPKD (N) and 48 healthy controls (HC) were selected as control groups. 24-h urine collections were measured in all participants. 24-h urine citrate, calcium, urate, oxalate, magnesium and sodium, serum electrolytes, and eGFRs were compared. RESULTS: Total kidney volumes were not different between patients with PKD N + and PKD N -. Hypocitraturia was common in all patients with ADPKD (69.4%), and it was not different between PKD N + (76.2%) and PKD N- (62.8%). However, hypocitraturia was statistically higher in PKD N + and PKD N - than in N (38.3%) and HC (12.5%) (p<0.05). 24-h urine calcium, urate, and oxalate levels were similar between PKD N + and PKD N - CONCLUSIONS: Hypocitraturia was found to be significantly higher in patients with ADPKD than in healthy adults and other kidney stone patients.


Assuntos
Cálculos Renais , Rim Policístico Autossômico Dominante , Adulto , Humanos , Estudos Transversais , Ácido Úrico , Cálculos Renais/epidemiologia , Cálculos Renais/etiologia , Fatores de Risco
18.
J Surg Res ; 291: 151-157, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37399633

RESUMO

INTRODUCTION: Parathyroidectomy is underperformed despite clear benefits in primary hyperparathyroidism (PHPT). We evaluated disparities in receipt of parathyroidectomy following PHPT diagnosis to explore barriers to care. METHODS: Adults diagnosed with PHPT 2013-2018 at a health system were identified. Recommended indications for parathyroidectomy include age ≤50 y, calcium >11 mg/dL, or the presence of nephrolithiasis, hypercalciuria, nephrocalcinosis, decreased glomerular filtration rate, osteopenia, osteoporosis, or pathological fracture 1 y prior to diagnosis. Kaplan-Meier analysis assessed rates of parathyroidectomy within 12 mo following diagnosis as well as median time to parathyroidectomy, and multivariable Cox proportional hazards analyses assessed factors associated with undergoing parathyroidectomy. RESULTS: Of 2409 patients, 75% were females, 12% aged ≤50 y, and 92% non-Hispanic White, while 52% had Medicaid/Medicare, 36% were commercial/self-pay or uninsured, and 12% unknown. Parathyroidectomy was performed within 1 y in 50% of patients. Within the 68% that met recommendations, parathyroidectomy was performed within 1 y in 54%; median time from diagnosis to surgery was shorter for males, patients aged ≤50 y, commercial/self-pay/no insurance patients (versus Medicaid/Medicare), and those with fewer comorbidities, P < 0.05. Multivariable analysis demonstrated non-Hispanic White patients and those with commercial/self-pay/uninsured were more likely to undergo parathyroidectomy after adjusting for comorbidity, age, and facility site. Among those strongly indicated, patients not on Medicare/Medicaid and aged ≤50 y were more likely to undergo parathyroidectomy after adjusting for race, comorbidity, and facility site. CONCLUSIONS: Disparities in parathyroidectomy for PHPT were observed. Insurance type was associated with undergoing parathyroidectomy; patients on governmental insurance were less likely to undergo surgery and waited longer for surgery despite strong indications. Barriers to referral and access to surgery should be investigated and addressed to optimize all patients' access to care.


Assuntos
Hiperparatireoidismo Primário , Cálculos Renais , Osteoporose , Estados Unidos/epidemiologia , Masculino , Adulto , Feminino , Humanos , Idoso , Hiperparatireoidismo Primário/cirurgia , Hiperparatireoidismo Primário/complicações , Paratireoidectomia , Medicare , Osteoporose/complicações , Osteoporose/diagnóstico , Osteoporose/cirurgia , Estudos Retrospectivos
20.
J Endourol ; 37(8): 948-955, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37310890

RESUMO

Purpose: Use deep learning (DL) to automate the measurement and tracking of kidney stone burden over serial CT scans. Materials and Methods: This retrospective study included 259 scans from 113 symptomatic patients being treated for urolithiasis at a single medical center between 2006 and 2019. These patients underwent a standard low-dose noncontrast CT scan followed by ultra-low-dose CT scans limited to the level of the kidneys. A DL model was used to detect, segment, and measure the volume of all stones in both initial and follow-up scans. The stone burden was characterized by the total volume of all stones in a scan (SV). The absolute and relative change of SV, (SVA and SVR, respectively) over serial scans were computed. The automated assessments were compared with manual assessments using concordance correlation coefficient (CCC), and their agreement was visualized using Bland-Altman and scatter plots. Results: Two hundred twenty-eight out of 233 scans with stones were identified by the automated pipeline; per-scan sensitivity was 97.8% (95% confidence interval [CI]: 96.0-99.7). The per-scan positive predictive value was 96.6% (95% CI: 94.4-98.8). The median SV, SVA, and SVR were 476.5 mm3, -10 mm3, and 0.89, respectively. After removing outliers outside the 5th and 95th percentiles, the CCC measuring agreement on SV, SVA, and SVR were 0.995 (0.992-0.996), 0.980 (0.972-0.986), and 0.915 (0.881-0.939), respectively Conclusions: The automated DL-based measurements showed good agreement with the manual assessments of the stone burden and its interval change on serial CT scans.


Assuntos
Aprendizado Profundo , Cálculos Renais , Urolitíase , Humanos , Estudos Retrospectivos , Cálculos Renais/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos
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