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1.
Am J Surg ; 231: 91-95, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38480062

RESUMO

BACKGROUND: We aimed to investigate the prevalence, characteristics, and management of nephrolithiasis in primary hyperparathyroidism (PHPT) patients. METHODS: Medical records of patients who underwent parathyroidectomy at a tertiary care hospital in British Columbia from January 2016 to April 2023 were retrospectively reviewed. Demographic data, laboratory results, imaging reports, and urologic consultations were examined. Descriptive statistics and relevant statistical tests, including logistic regressions, were utilized for data analysis. RESULT: Of the 413 PHPT patients included in the study population, 41.9% harbored renal stones, and nearly half (48.6%) required urological interventions. Male sex, elevated preoperative serum ionized calcium (iCa) and 24-h urinary calcium (24 â€‹h urine Ca) levels were independent risk factors for stone formation. Additionally, male sex, younger age, and lower preoperative serum 25-hydroxyvitamin D (25(OH)D) level were associated with higher odds of requiring urological intervention for stones. CONCLUSIONS: This study identified significant prevalence of asymptomatic renal calcifications in PHPT patients, with a substantial proportion necessitating urological intervention. These findings emphasize the importance of incorporating screening and treatment of renal stones into the management of PHPT patients.


Assuntos
Hiperparatireoidismo Primário , Nefrolitíase , Humanos , Masculino , Cálcio , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/cirurgia , Estudos Retrospectivos , Nefrolitíase/complicações , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Colúmbia Britânica , Paratireoidectomia/efeitos adversos , Hormônio Paratireóideo
2.
World J Urol ; 42(1): 128, 2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38460023

RESUMO

PURPOSES: Our aim is to build and evaluate models to screen for clinically significant nephrolithiasis in overweight and obesity populations using machine learning (ML) methodologies and simple health checkup clinical and urine parameters easily obtained in clinics. METHODS: We developed ML models to screen for clinically significant nephrolithiasis (kidney stone > 2 mm) in overweight and obese populations (body mass index, BMI ≥ 25 kg/m2) using gender, age, BMI, gout, diabetes mellitus, estimated glomerular filtration rate, bacteriuria, urine pH, urine red blood cell counts, and urine specific gravity. The data were collected from hospitals in Kaohsiung, Taiwan between 2012 and 2021. RESULTS: Of the 2928 subjects we enrolled, 1148 (39.21%) had clinically significant nephrolithiasis and 1780 (60.79%) did not. The testing dataset consisted of data collected from 574 subjects, 235 (40.94%) with clinically significant nephrolithiasis and 339 (59.06%) without. One model had a testing area under curve of 0.965 (95% CI, 0.9506-0.9794), a sensitivity of 0.860 (95% CI, 0.8152-0.9040), a specificity of 0.947 (95% CI, 0.9230-0.9708), a positive predictive value of 0.918 (95% CI, 0.8820-0.9544), and negative predictive value of 0.907 (95% CI, 0.8756-0.9371). CONCLUSION: This ML-based model was found able to effectively distinguish the overweight and obese subjects with clinically significant nephrolithiasis from those without. We believe that such a model can serve as an easily accessible and reliable screening tool for nephrolithiasis in overweight and obesity populations and make possible early intervention such as lifestyle modifications and medication for prevention stone complications.


Assuntos
Diabetes Mellitus , Cálculos Renais , Nefrolitíase , Humanos , Sobrepeso/complicações , Sobrepeso/epidemiologia , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Nefrolitíase/etiologia , Obesidade/complicações , Obesidade/epidemiologia , Cálculos Renais/complicações , Índice de Massa Corporal
3.
Nephrology (Carlton) ; 29(4): 201-213, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38290500

RESUMO

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey. METHODS: This is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood-onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3). RESULTS: Forty-eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality. CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.


Assuntos
Hiperoxalúria Primária , Hiperoxalúria , Falência Renal Crônica , Nefrocalcinose , Nefrolitíase , Insuficiência Renal , Humanos , Criança , Nefrocalcinose/diagnóstico , Nefrocalcinose/epidemiologia , Nefrocalcinose/etiologia , Estudos Retrospectivos , Falência Renal Crônica/complicações , Diálise Renal/efeitos adversos , Hiperoxalúria Primária/complicações , Hiperoxalúria Primária/diagnóstico , Hiperoxalúria Primária/genética , Nefrolitíase/complicações , Nefrolitíase/diagnóstico , Nefrolitíase/genética , Hiperoxalúria/complicações
4.
High Blood Press Cardiovasc Prev ; 30(4): 343-350, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37330455

RESUMO

Hypertension (Htn) is a crucial cause of cardio-vascular and chronic kidney disease. Moreover, it is an independent risk factor for nephrolithiasis (NL). A diet rich in vegetables and fruits is indicated for both Htn and NL prevention, and the 24-h urinary potassium excretion can be used as a warning light for adherence. The aim of this study is to demonstrate the association between urinary potassium excretion and recurrent nephrolithiasis among patients affected by Htn. We have analyzed medical records of 119 patients affected by Htn and NL (SF-Hs) referring to Bone and Mineral Metabolism laboratory and 119 patients affected by Htn but without NL (nSF-Hs) referring to Hypertension and Organ Damage Hypertension related laboratory, both in Federico II University of Naples. The potassium 24-h urinary levels in SF-Hs were significantly lower compared to nSF-Hs. This difference was confirmed by the multivariable linear regression analysis in the unadjusted model and adjusted model for age, gender, metabolic syndrome, and body mass index. In conclusion, a higher potassium urinary excretion in 24-h is a protective factor against NL in patients affected by Htn and dietary interventions can be considered for kidney protection.


Assuntos
Hipertensão , Nefrolitíase , Humanos , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Nefrolitíase/etiologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Fatores de Risco , Dieta/efeitos adversos , Potássio/urina , Pressão Sanguínea/fisiologia
6.
Pediatr Nephrol ; 38(8): 2615-2622, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36688940

RESUMO

BACKGROUND: Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC). METHODS: This retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/2019-9/30/2021. The diagnostic yield of the genetic panel was calculated. Bivariate and multiple logistic regression were performed to assess for predictors of positive genetic testing. RESULTS: One hundred and thirteen children (83 NL, 30 NC) from 7 centers were included. Genetic testing was positive in 32% overall (29% NL, 40% NC) with definite diagnoses (had pathogenic variants alone) made in 11.5%, probable diagnoses (carried a combination of pathogenic variants and variants of uncertain significance (VUS) in the same gene) made in 5.4%, and possible diagnoses (had VUS alone) made in 15.0%. Variants were found in 28 genes (most commonly HOGA1 in NL, SLC34A3 in NC) and 20 different conditions were identified. Compared to NL, those with NC were younger and had a higher proportion with developmental delay, hypercalcemia, low serum bicarbonate, hypophosphatemia, and chronic kidney disease. In multivariate analysis, low serum bicarbonate was associated with increased odds of genetic diagnosis (ß 2.2, OR 8.7, 95% CI 1.4-54.7, p = 0.02). CONCLUSIONS: Genetic testing was high-yield with definite, probable, or possible explanatory variants found in up to one-third of children with NL/NC and shows promise to improve clinical practice. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Cálculos Renais , Nefrocalcinose , Nefrolitíase , Criança , Humanos , Adulto Jovem , Adulto , Nefrocalcinose/diagnóstico , Nefrocalcinose/genética , Bicarbonatos , Estudos Transversais , Nefrolitíase/diagnóstico , Nefrolitíase/genética , Cálculos Renais/genética , Testes Genéticos
7.
Nephrol Ther ; 18(6): 570-574, 2022 Nov.
Artigo em Francês | MEDLINE | ID: mdl-36280550

RESUMO

INTRODUCTION: Urinary lithiasis is a very common condition. The morpho-constitutional analysis of urinary stones is important for etiological diagnosis. It guides the explorations and the specific management. Type IVa2 stones are rare, have particular morphology and correspond to very targeted pathologies. We propose to report our cases of patients diagnosed with type IVa2 urinary lithiasis. METHODS: Our retrospective work focused on three cases of patients with the morphological type of renal lithiasis IVa2, collected between 2008 and 2020 in the Medicine A Department of Charles Nicolle Hospital in Tunis. RESULTS: All three patients were female; average age 37.6 years. The clinical symptomatology was identical marked by renal colic with recurrent episodes. The presence of a type IVa2 stone, isolated or associated with other components, guided the etiological investigation to look for a secondary or primary cause of distal renal tubular acidosis. We retained the diagnosis of a primary hyperparathyroidism in one case and a primary Gougerot-Sjögren's syndrome in the second case, and probable in the last case. CONCLUSION: Determination of urolithiasis nature (morphological and chemical), although carried out late, was of major interest to us and allowed us to make the diagnosis of distal tubular acidosis.


Assuntos
Acidose Tubular Renal , Acidose , Nefrolitíase , Urolitíase , Humanos , Feminino , Adulto , Masculino , Estudos Retrospectivos , Urolitíase/complicações , Urolitíase/diagnóstico , Acidose Tubular Renal/complicações , Acidose Tubular Renal/diagnóstico , Nefrolitíase/complicações , Nefrolitíase/diagnóstico
8.
Front Endocrinol (Lausanne) ; 13: 947497, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36120445

RESUMO

Background: Nephrolithiasis is a common complication of primary hyperparathyroidism (PHPT), and the recurrence of nephrolithiasis in patients with PHPT is also an urgent concern. What is worse, there is a scarcity of recommended evaluation to predict the risk of nephrolithiasis recurrence in patients with PHPT. This study was aimed to develop and validate a nomogram to facilitate risk assessment in patients with PHPT. Methods: A total of 197 patients with PHPT were retrospectively included in this study from September 2016 to August 2021. Patients' demographic data, blood test parameters, urinalysis, stone parameters, and surgical intervention were collected. Extracted variables were submitted to a least absolute shrinkage and selection operator (LASSO) regression model. A nomogram was built and validated according to the area under the curve (AUC) value, calibration curve, and decision curve analysis. Results: According to the LASSO regression and logistic regression analyses, five predictors were derived from 22 variables: creatinine, uric acid, bilateral stone, multiplicity, and surgery. The AUC and concordance index of the training cohort and validation cohort were 0.829 and 0.856, and 0.827 and 0.877, respectively. The calibration curve analysis and the decision curve analysis showed that the nomogram had an adequate prediction accuracy. Conclusion: We built a useful nomogram model to predict the risk of nephrolithiasis recurrence in patients with PHPT. This would assist clinicians to provide appropriate advices and managements for these patients.


Assuntos
Hiperparatireoidismo Primário , Nefrolitíase , Creatinina , Humanos , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/cirurgia , Nefrolitíase/complicações , Nefrolitíase/diagnóstico , Nomogramas , Estudos Retrospectivos , Ácido Úrico
9.
Pediatr Transplant ; 26(8): e14380, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35979862

RESUMO

BACKGROUND: Although nephrolithiasis (NL) and nephrocalcinosis (NC) are very common features of primary hyperoxaluria type 1 (PH1), the long-term prognosis of NL and NC after preemptive liver transplantation (PLT) has not been elucidated. MATERIAL AND METHODS: We describe the cases of two chronic kidney disease (CKD) stage three patients with different clinical courses after PLT for PH1. RESULTS: The first patient underwent PLT at 7 years of age with an estimated glomerular filtration rate (eGFR) of 47.8 ml/min/1.73 m2 . Two years later, she experienced several episodes of obstructive pyelonephritis due to urolithiasis, and developed septic shock in one of these episodes. At the same time as these episodes, preexisting NL and NC progressively improved, with disappearance on X-ray disappeared at 8 years after transplantation. Her renal function has been maintained with an eGFR of 58.7 ml/min/1.73 m2 . The second patient received PLT at 10 years of age with an eGFR of 58.9 ml/min/1.73 m2 . Her renal function has been maintained with an eGFR of 65.9 ml/min/1.73 m2 . She had repeated urolithiasis which started to appear at 3 years after LT. The radiological findings still show bilateral NL and NC, but the stones in the renal pelvis have shown mild improvement. CONCLUSIONS: Regardless of the regression in NC seen on X-ray, long-term maintenance of the renal function in patients with PH1 with CKD stage 3 can be achieved with PLT. In patients with NL, there is a risk of serious complications due to posttransplant immunosuppressive therapy when obstructive pyelonephritis occurs after LT.


Assuntos
Hiperoxalúria Primária , Hiperoxalúria , Falência Renal Crônica , Transplante de Fígado , Nefrocalcinose , Nefrolitíase , Pielonefrite , Urolitíase , Humanos , Feminino , Nefrocalcinose/etiologia , Nefrocalcinose/complicações , Transplante de Fígado/efeitos adversos , Falência Renal Crônica/complicações , Falência Renal Crônica/cirurgia , Hiperoxalúria Primária/complicações , Hiperoxalúria Primária/cirurgia , Nefrolitíase/complicações , Nefrolitíase/diagnóstico , Urolitíase/complicações , Pielonefrite/complicações
10.
Mol Genet Genomics ; 297(4): 1049-1061, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35612621

RESUMO

OBJECTIVE: Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype-phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis. METHODS: The clinical data of 32 NL/NC cases, which were suspected to have an inherited basis, were retrospectively analyzed from May 2017 to August 2020. The trio-whole exome sequencing was used as the main approach for genetic testing, variants were confirmed by Sanger sequencing, and pathogenicity analysis according to protein function was predicted with custom-developed software. RESULTS: Causative monogenic mutations were detected in 24 of 32 NL/NC patients, and copy number variation was detected in one patient. A summary of manifestations in patients with inherited diseases revealed a significant degree of growth retardation, increased urinary excretion of the low-molecular weight protein, hypercalciuria, electrolyte imbalances, and young age of onset to be common in heredity disease. In addition, some patients had abnormal renal function (3 ppm 25). The most frequent pathology identified was distal renal tubular acidosis (with inclusion of SLC4A1, ATP6V1B1, and ATP6VOA4 genes), followed by Dent disease (CLCN5 and OCRL1 genes), primary hyperoxaluria (PH) (AGXT and HOGA1 genes) and Kabuki syndrome (KMT2D gene), which was more likely to present as NC or recurrent stone and having a higher correlation with a specific biochemical phenotype and extrarenal phenotype. CONCLUSION: The etiology of NL/NC is heterogeneous. This study explored in depth the relationship between phenotype and genotype in 32 patients, and confirmed that genetic testing and clinical phenotype evaluation enable the precision medicine approach to treating patients.


Assuntos
Nefrocalcinose , Nefrolitíase , Pediatria , ATPases Vacuolares Próton-Translocadoras , Criança , Variações do Número de Cópias de DNA , Testes Genéticos , Humanos , Mutação , Nefrocalcinose/genética , Nefrolitíase/diagnóstico , Nefrolitíase/genética , Medicina de Precisão , Estudos Retrospectivos , ATPases Vacuolares Próton-Translocadoras/genética
11.
J Pediatr Urol ; 18(1): 26.e1-26.e9, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34980558

RESUMO

INTRODUCTION: Children with nephrolithiasis have a 50% risk of recurrence 3 years following an index urinary stone event. The American Urological Association guidelines for medical management of nephrolithiasis suggest metabolic evaluations be stratified according to risk of future stone events. However, no such risk stratification exists across the pediatric population with urinary stone disease. We aim to assess the risk factors among pediatric patients for a subsequent stone event (SSE). MATERIALS AND METHODS: A retrospective review for children <17 years of age with a diagnosis of nephrolithiasis and at least one completed follow-up at two tertiary-care children's hospitals within our state between 2012 and 2017 was performed. Children with known monogenic stone disease were excluded as well as those with follow-up less than 1 year. SSEs following initial diagnosis and treatment for nephrolithiasis were defined as follows: subsequent surgical intervention, new stone on imaging, reported stone passage, or ED evaluation for renal colic. Clinical and demographic factors were compared between patients with and without SSEs and analyzed using univariate and multivariate analyses via Cox proportional hazard models. Survival curves for significant associations for SSEs were generated and evaluated using Log-Rank and Wilcoxon comparisons. RESULTS: A total of 200 patients with median clinical follow-up of 2.9 years were analyzed. Median age was 11.5 years (IQR: 6.0-15.5), with 109 (54.5%) males and 91 (45.5%) females, 94 (47%) of whom had a relevant comorbidity. An SSE occurred in 82 patients (41.0%). Age >12 (HR 2.21, 95%CI 1.42-3.45), reported stone event prior to enrollment encounter (i.e. personal history of nephrolithiasis) (HR 1.82, 95%CI 1.14-2.89), and family history of nephrolithiasis (HR 1.62, 95%CI 1.05-2.51) were associated with SSE on univariate analysis while age >12 (HR 2.09, 95%CI 1.33-3.27) and personal history of nephrolithiasis (HR 1.63, 1.02-2.6) retained significance on multivariable analysis. Survival analysis shows increased risk of recurrence with accumulation of risk factors (Summary Figure). Sensitivity analysis accounting for missing family history data retained significance for all three variables. CONCLUSIONS: Adolescent age and a personal history of nephrolithiasis are independent risk factors for SSE in children. Understanding these risk factors and the nature of SSE among the pediatric population can potentially enhance counseling for further metabolic work-up and tailored clinical follow-up.


Assuntos
Cálculos Renais , Nefrolitíase , Cálculos Urinários , Urolitíase , Adolescente , Criança , Feminino , Humanos , Cálculos Renais/diagnóstico , Masculino , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Nefrolitíase/terapia , Estudos Retrospectivos , Fatores de Risco
12.
Curr Opin Urol ; 32(2): 158-164, 2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-34954706

RESUMO

PURPOSE OF REVIEW: The coronavirus disease 2019 (COVID-19) pandemic led to a drastic change in healthcare priorities, availability of resources and accommodation of different needs and scenarios. We sought to review the effect of the pandemic on different aspects of nephrolithiasis. RECENT FINDINGS: The pandemic resulted in a significant impact on management of patients with nephrolithiasis around the world. A significant decrease in patient presentation and differences in strategies of management to truncate exposure and surgery time and expedite patient discharge deferring definitive management has been noted. Moreover, new safety measures such as COVID-19 PCR testing prior to surgery and limiting any intervention for COVID-19 positive patients to only life-saving scenarios has been implemented. Different emergency triaging proposals are being used, mainly including high risk patients with septic shock or complete obstruction/renal injury. Moreover, the emergence of telehealth has changed outpatient practice dramatically with a significant adoption to minimize exposure. Lastly, the effect of COVID-19 on renal physiology has been described with significant potential to cause morbidity from immediate or delayed acute kidney. No physiological effect on stone formation has yet been described, and transmission through urine is rare. SUMMARY: The COVID-19 pandemic has markedly shifted the treatment of nephrolithiasis in many ways, including emergency triage, outpatient care, and definitive management. Although various approaches and algorithms proposed are meant to optimize management in the time of the pandemic, further studies are required for validation.


Assuntos
COVID-19 , Nefrolitíase , Humanos , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Nefrolitíase/terapia , Pandemias , SARS-CoV-2 , Triagem
13.
Surgery ; 171(1): 23-28, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34330541

RESUMO

BACKGROUND: Nephrolithiasis is a sequela of primary hyperparathyroidism and an indication for parathyroidectomy. The prevalence of primary hyperparathyroidism in patients with nephrolithiasis is 3% to 5%; however, recent studies suggest that many hypercalcemic patients with nephrolithiasis never undergo workup for primary hyperparathyroidism. Our goal is to evaluate primary hyperparathyroidism screening rates at a tertiary academic health institution and identify opportunities to increase referral rates in patients presenting with nephrolithiasis. METHODS: We retrospectively reviewed 15,725 patients across an academic health system who presented with nephrolithiasis between 2012 and 2020. Calcium levels measured within 6 months of presentation were identified, and those with hypercalcemia (≥10.3 mg/dL) were reviewed if parathyroid hormone levels were measured. Patients with primary hyperparathyroidism were evaluated to see if they were referred to a specialist for treatment. RESULTS: Of 15,725 patients presenting with nephrolithiasis, 12,420 (79%) had calcium levels measured; 630 patients (4.0%) were hypercalcemic, and 207 (33%) had parathyroid hormone levels measured. Patients were more likely to have parathyroid hormone levels sent if they were older, had higher calcium levels, or presented to an outpatient clinic (P = .028, P = .002, P < .001). We identified 89 patients (0.6%) with primary hyperparathyroidism, of which only 35 (39%) were referred for treatment. CONCLUSION: The proportion of patients presenting with nephrolithiasis ultimately diagnosed with primary hyperparathyroidism was significantly lower than others have reported. Additionally, a substantial number of patients with nephrolithiasis did not have calcium and/or parathyroid hormone levels measured. These missed opportunities for diagnosis are critical as early definitive management of primary hyperparathyroidism can prevent recurrent nephrolithiasis and other primary hyperparathyroidism-related end organ effects.


Assuntos
Cálcio/sangue , Hipercalcemia/diagnóstico , Hiperparatireoidismo Primário/diagnóstico , Diagnóstico Ausente/prevenção & controle , Nefrolitíase/etiologia , Adulto , Idoso , Feminino , Humanos , Hipercalcemia/sangue , Hipercalcemia/etiologia , Hipercalcemia/cirurgia , Hiperparatireoidismo Primário/sangue , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/cirurgia , Masculino , Pessoa de Meia-Idade , Nefrolitíase/sangue , Nefrolitíase/diagnóstico , Hormônio Paratireóideo/sangue , Paratireoidectomia/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Estudos Retrospectivos
14.
Emerg Med Clin North Am ; 39(4): 703-717, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34600632

RESUMO

Abdominal pain is the most common chief complaint in the Emergency Department. Abdominal pain is caused by a variety of gastrointestinal and nongastrointestinal disorders. Some frequently missed conditions include biliary pathology, appendicitis, diverticulitis, and urogenital pathology. The Emergency Medicine clinician must consider all aspects of the patient's presentation including history, physical examination, laboratory testing, and imaging. If no diagnosis is identified, close reassessment of pain, vital signs, and physical examination are necessary to ensure safe discharge. Strict verbal and written return precautions should be provided to the patient.


Assuntos
Dor Abdominal/etiologia , Diagnóstico Ausente , Aneurisma da Aorta Abdominal/diagnóstico , Apendicite/diagnóstico , Colecistite/diagnóstico , Cetoacidose Diabética/diagnóstico , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Isquemia Mesentérica/diagnóstico , Neoplasias/diagnóstico , Nefrolitíase/diagnóstico , Torção Ovariana/diagnóstico , Alta do Paciente , Doenças Respiratórias/diagnóstico , Infecções Sexualmente Transmissíveis/diagnóstico , Torção do Cordão Espermático/diagnóstico , Infecções Urinárias/diagnóstico
15.
Genes (Basel) ; 12(10)2021 10 11.
Artigo em Inglês | MEDLINE | ID: mdl-34680992

RESUMO

Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients may present with extra-renal symptoms (ESs). Since DD2 is a rare disease and there are a low number of reported cases, it is still unclear whether it has a clinical picture distinct from LS. We retrospectively analyzed the phenotype and genotype of our cohort of 35 DD2 males and reviewed all published DD2 cases. We analyzed the distribution of mutations along the OCRL gene and evaluated the type and frequency of ES according to the type of mutation and localization in OCRL protein domains. The frequency of patients with at least one ES was 39%. Muscle findings are the most common ES (52%), while ocular findings are less common (11%). Analysis of the distribution of mutations revealed (1) truncating mutations map in the PH and linker domain, while missense mutations map in the 5-phosphatase domain, and only occasionally in the ASH-RhoGAP module; (2) five OCRL mutations cause both DD2 and LS phenotypes; (3) codon 318 is a DD2 mutational hot spot; (4) a correlation was found between the presence of ES and the position of the mutations along OCRL domains. DD2 is distinct from LS. The mutation site and the mutation type largely determine the DD2 phenotype.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/genética , Pleiotropia Genética/genética , Nefrolitíase/genética , Síndrome Oculocerebrorrenal/genética , Monoéster Fosfórico Hidrolases/genética , Adolescente , Variação Biológica da População/genética , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia , Genótipo , Humanos , Rim/metabolismo , Rim/patologia , Masculino , Mutação de Sentido Incorreto/genética , Nefrolitíase/diagnóstico , Nefrolitíase/epidemiologia , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/epidemiologia , Fenótipo
16.
Rev. chil. obstet. ginecol. (En línea) ; 86(3): 332-343, jun. 2021. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1388657

RESUMO

Resumen La litiasis renal en la paciente gestante es una condición relativamente infrecuente; sin embargo, es la causa más común de dolor no obstétrico durante el embarazo. En el periodo de gestación se producen diversos cambios anatomofisiológicos en el tracto urinario, como la dilatación de los cálices renales, la pelvis renal y los uréteres por causa del efecto que ejerce la progesterona sobre el músculo liso uretral, y la compresión de los uréteres por el útero grávido. Estas modificaciones conducen a un aumento del flujo plasmático renal y de la tasa de filtrado glomerular, ocasionando hiperuricosuria e hipercalciuria. Del mismo modo, durante el embarazo también se produce un aumento de la secreción de inhibidores de cálculos, por lo cual la prevalencia de la formación de cálculos durante el embarazo es similar a la de las mujeres no embarazadas. El bajo índice de sospecha por parte del médico tratante puede entorpecer el diagnóstico y el tratamiento de esta patología, que también son limitados en la gestación debido a los potenciales riesgos teratogénicos. Se realiza una revisión narrativa de la literatura partiendo de la evidencia científica disponible en las diferentes bases de datos y de esta manera se pretende instruir al médico en los aspectos clave de dicho tema.


Abstract Renal lithiasis in pregnant women is a relatively rare condition. However, it is the most common cause of non-obstetric pain during pregnancy. During the gestation period, various anatomical-physiological changes occur in the urinary tract. These changes include dilation of the renal calyces, renal pelvis, and ureters due to the effect of progesterone on urethral smooth muscle and compression of the ureters by the gravid uterus. These modifications lead to an increase in renal plasma flow and glomerular filtration rate, thus causing hyperuricosuria and hypercalciuria. Similarly, during pregnancy there is also an increase in the secretion of stone inhibitors, therefore, the prevalence of stone formation during pregnancy is similar to non-pregnant women. The low index of suspicion on the part of the treating physician can hinder the diagnosis and treatment of this pathology, which is also limited in pregnancy due to teratogenic risks. A narrative review of the literature is carried out based on the scientific evidence available in the different databases and in this way it is intended to instruct the doctor in the key aspects of said topic.


Assuntos
Humanos , Feminino , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/terapia , Nefrolitíase/diagnóstico , Nefrolitíase/terapia , Complicações na Gravidez/etiologia , Algoritmos , Fatores de Risco , Nefrolitíase/etiologia
18.
Arch. argent. pediatr ; 119(2): 83-90, abril 2021. tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1151230

RESUMO

Introducción. Los pediatras, cirujanos y subespecialistas, como urólogos y nefrólogos pediátricos, participan en el diagnóstico y tratamiento de la nefrolitiasis pediátrica. El objetivo fue determinar los enfoques de distintas disciplinas y evaluar las diferencias en sus protocolos de diagnóstico y tratamiento habituales.Población y métodos. Cuestionario administrado a participantes de sesiones sobre nefrolitiasis en congresos nacionales en 2017 para evaluar las rutinas de diagnóstico y tratamiento de la nefrolitiasis entre distintas especialidades (cirujanos y pediatras) y subespecialidades (nefrólogos pediátricos y urólogos pediátricos).Resultados. Se analizaron 324 cuestionarios de 88 pediatras, 121 urólogos, 23 cirujanos pediátricos, 54 nefrólogos pediátricos y 38 urólogos pediátricos. Ambos grupos coincidieron en la necesidad de una evaluación metabólica. Para los cálculos ureterales distales ≥6 mm, los cirujanos preferían una ureteroscopía; los pediatras, una litotricia por ondas de choque (LOC) (p < 0,001); y los subespecialistas, una ureteroscopía (p = 0,636). Para los cálculos en la parte inferior de los cálices renales < 1 cm, los cirujanos y los subespecialistas preferían la LOC y los pediatras, la hidratación (p < 0,001; p = 0,371). Para los cálculos de entre 1,1 cm y 2 cm, los cirujanos preferían la cirugía retrógrada intrarrenal (CRIR) y la LOC, y los pediatras, la LOC (p = 0,001). Para los cálculos más grandes, los cirujanos y subespecialistas preferían la nefrolitotomía percutánea (NLP) y los pediatras, la LOC (p = 0,458; p = 0,001).Conclusión. Existen diferencias entre las disciplinas que participan activamente en el diagnóstico y tratamiento de la nefrolitiasis


Introduction. Pediatricians, surgeons and subspecialties as pediatric urology and nephrology are involved in the diagnosis and treatment of pediatric renal stone disease (RSD). The aim of this study was to determine diagnostic and treatment approaches, of different disciplines, and to assess differences in their routine diagnostic and treatment protocols.Population and methods. A questionnaire was designed and administered to the participants of the RSD sessions in national congresses of all disciplines in 2017 to evaluate the diagnostic and treatment routines of specialties (surgeons and pediatricians) and subspecialties (pediatric nephrologists and pediatric urologists) for RSD. Results. A total, of 324 questionnaires were analyzed, from 88 pediatricians (27 %), 121 urologists (37 %), 23 pediatric surgeons (7 %), 54 pediatric nephrologists (17 %), and 38 pediatric urologists (12 %). Both groups agreed on the necessity of metabolic evaluation. For distal ureter stones that were ≥ 6 mm; surgeons preferred ureteroscopy (URS), pediatricians preferred shock wave lithotripsy (SWL) (p < 0.001) and subspecialties preferred URS for the treatment (p = 0.636). For lower calix stones less than 1 cm surgeons and subspecialists preferred SWL, while pediatricians preferred hydration (p < 0.001, p = 0.371). For the stone between 1.1 and 2 cm, surgeons preferred intrarenal surgery (RIRS) and SWL, pediatricians preferred SWL (p = 0.001). For larger stones, surgeons and subspecialists preferred percutaneous nephrolithotomy (PCNL), and pediatricians preferred SWL (p = 0.458 p = 0.001). Pediatric urologist chose low-dose computerized tomography as a diagnostic radiologic evaluation (p = 0.029).Conclusion. There are differences between the disciplines who take an active role in diagnosis and treatment of RSD.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Nefrolitíase/terapia , Pediatria , Turquia , Inquéritos e Questionários , Ureteroscopia , Nefrolitíase/diagnóstico
19.
Can J Urol ; 28(1): 10542-10546, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33625345

RESUMO

INTRODUCTION The opioid epidemic is a growing problem in the United States. There is a high rate of opioid oversupply for treatment of symptomatic nephrolithiasis, partly due to patients being seen by multiple providers. In Pennsylvania, there are efforts to integrate a prescription drug monitoring program (PDMP) within the electronic medical record (EMR). The objectives of this study were to evaluate prescribing practices for opioids for symptomatic nephrolithiasis and the incidence of prescriptions not documented within the EMR. MATERIALS AND METHODS: Adults who presented for treatment of symptomatic nephrolithiasis were sequentially evaluated from May - October 2017 at Penn State Milton S. Hershey Medical Center. With IRB approval, we evaluated opioids prescribed in the EMR, which was compared to the PDMP for each stone episode. We calculated daily morphine milligram equivalents (MME) and total MME available to patients. RESULTS: A total of 301 patients were identified (52% male) with a mean age of 50.0 +/- 16.7 years and 249 (83%) of patients were prescribed narcotics with an average of 226.8 +/- 232.2 MME for their stone episode. Of patients that were prescribed narcotics, 19% had additional narcotics prescribed to them that were not entered into the EMR and later identified using PDMP. The average additional opioid prescribed was 371.8 +/- 404.2 total MME. CONCLUSIONS: The majority of patients presenting with symptomatic nephrolithiasis were prescribed an opioid. Approximately one-fifth of patients were receiving opioids from other providers that were not documented in the EMR at the time of their opioid prescription. PDMP, or similar resources, should be utilized by providers to minimize opioid use and reduce oversupplying patients.


Assuntos
Analgésicos Opioides/uso terapêutico , Nefrolitíase/tratamento farmacológico , Padrões de Prática Médica , Programas de Monitoramento de Prescrição de Medicamentos , Adulto , Idoso , Feminino , Humanos , Masculino , Auditoria Médica , Pessoa de Meia-Idade , Nefrolitíase/diagnóstico , Estudos Retrospectivos
20.
Isr Med Assoc J ; 23(1): 12-16, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33443336

RESUMO

BACKGROUND: Dietary modifications and patient-tailored medical management are significant in controlling renal stone disease. Nevertheless, the literature regarding effectiveness is sparse. OBJECTIVES: To explore the impact of dietary modifications and medical management on 24-hour urinary metabolic profiles (UMP) and renal stone status in recurrent kidney stone formers. METHODS: We reviewed our prospective registry database of patients treated for nephrolithiasis. Data included age, sex, 24-hour UMP, and stone burden before treatment. Under individual treatment, patients were followed at 6-8 month intervals with repeat 24-hour UMP and radiographic images. Nephrolithiasis-related events (e.g., surgery, renal colic) were also recorded. We included patients with established long-term follow-up prior to the initiation of designated treatment, comparing individual nephrolithiasis status before and after treatment initiation. RESULTS: Inclusion criteria were met by 44 patients. Median age at treatment start was 60.5 (50.2-70.2) years. Male:Female ratio was 3.9:1. Median follow-up was 10 (6-25) years and 5 (3-6) years before and after initiation of medical and dietary treatment, respectively. Metabolic abnormalities detected included: hypocitraturia (95.5%), low urine volume (56.8%), hypercalciuria (45.5%), hyperoxaluria (40.9%), and hyperuricosuria (13.6%). Repeat 24-hour UMP under appropriate diet and medical treatment revealed a progressive increase in citrate levels compared to baseline and significantly decreased calcium levels (P = 0.001 and 0.03, respectively). A significant decrease was observed in stone burden (P = 0.001) and overall nephrolithiasis-related events. CONCLUSIONS: Dietary modifications and medical management significantly aid in correcting urinary metabolic abnormalities. Consequently, reduced nehprolithiasis-related events and better stone burden control is expected.


Assuntos
Dietoterapia/métodos , Cálculos Renais , Nefrolitíase , Assistência ao Convalescente/métodos , Assistência ao Convalescente/estatística & dados numéricos , Cálcio/urina , Ácido Cítrico/urina , Feminino , Humanos , Israel/epidemiologia , Cálculos Renais/complicações , Cálculos Renais/epidemiologia , Cálculos Renais/fisiopatologia , Masculino , Conduta do Tratamento Medicamentoso/estatística & dados numéricos , Metaboloma/efeitos dos fármacos , Metaboloma/fisiologia , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Nefrolitíase/diagnóstico , Nefrolitíase/dietoterapia , Nefrolitíase/tratamento farmacológico , Nefrolitíase/metabolismo , Avaliação de Processos e Resultados em Cuidados de Saúde , Cólica Renal/epidemiologia , Cólica Renal/etiologia , Prevenção Secundária/métodos , Prevenção Secundária/estatística & dados numéricos , Procedimentos Cirúrgicos Operatórios/estatística & dados numéricos , Ácido Úrico/urina
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