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2.
World J Urol ; 42(1): 381, 2024 Jun 20.
Article in English | MEDLINE | ID: mdl-38900287

ABSTRACT

PURPOSE: Preoperative proteinuria is a prognostic factor of chronic kidney disease (CKD). We assessed the association between preoperative proteinuria and postoperative renal function after partial nephrectomy (PN). METHODS: We retrospectively reviewed our records of patients with a single malignant renal mass who underwent PN between 2000 and 2021. Patients with data on preoperative proteinuria were included. Baseline characteristics and eGFR differences over time between patients with and without proteinuria were evaluated. Univariate and multivariable logistic regression models (LRM) tested for presence of CKDIII or higher at 12-month and at last follow-up. RESULTS: Two hundred ninety-five patients were included. Twenty-two of them had preoperative proteinuria. No differences of age, smoking status, hypertension or diabetes, tumor size and use of ischemia were observed. Patients with proteinuria had a higher rate of CKD-III at baseline. At a median follow-up of 46.5 months (IQR 19-82), 117 patients developed de novo CKD-III, without differences in the two groups. No differences in decline in eGFR were observed. At univariate LRM, predictors of CKD-III at 12 months after PN were preoperative proteinuria (OR 3.2, 95%CI 1.4-7.8, p = 0.005), age and baseline eGFR, while predictors of CKD-III at last follow-up were age and baseline eGFR. At multivariable LRM, only baseline eGFR predicted CKD-III at 12-month and at last-follow-up. CONCLUSIONS: Preoperative eGFR is the only independent predictor of long-term renal function after PN. Preoperative proteinuria correlates with renal function at 12 months. Proteinuria should be assessed before PN to identify patients at higher risk of renal functional deterioration in the 12 months following PN.


Subject(s)
Carcinoma, Renal Cell , Glomerular Filtration Rate , Kidney Neoplasms , Nephrectomy , Preoperative Period , Proteinuria , Humans , Nephrectomy/methods , Kidney Neoplasms/surgery , Kidney Neoplasms/complications , Male , Proteinuria/etiology , Female , Middle Aged , Retrospective Studies , Carcinoma, Renal Cell/surgery , Aged , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/physiopathology , Renal Insufficiency, Chronic/epidemiology , Correlation of Data , Kidney/physiopathology
3.
BMC Med Genomics ; 17(1): 144, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38802873

ABSTRACT

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). It is considered a hereditary renal cancer syndrome despite the low incidence of RCC in TSC patients. TSC is typically diagnosed in prenatal and pediatric patients and frequently associated with neurocognitive disorders and seizures, which are often experienced early in life. However, penetrance and expressivity of TSC mutations are highly variable. Herein, we present a case report, with associated literature, to highlight that there exist undiagnosed adult patients with less penetrant features, whose clinical presentation may contain non-classical signs and symptoms, who have pathogenic TSC mutations. CASE PRESENTATION: A 31-year-old female with past medical history of leiomyomas status post myomectomy presented to the emergency department for a hemorrhagic adnexal cyst. Imaging incidentally identified a renal mass suspicious for RCC. Out of concern for hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, the mass was surgically removed and confirmed as RCC. Discussion with medical genetics ascertained a family history of kidney cancer and nephrectomy procedures and a patient history of ungual fibromas on the toes. Genetic testing for hereditary kidney cancer revealed a 5'UTR deletion in the TSC1 gene, leading to a diagnosis of TSC. Following the diagnosis, dermatology found benign skin findings consistent with TSC. About six months after the incidental finding of RCC, a PNET in the pancreatic body/tail was incidentally found on chest CT imaging, which was removed and determined to be a well-differentiated PNET. Later, a brain MRI revealed two small cortical tubers, one in each frontal lobe, that were asymptomatic; the patient's history and family history did not contain seizures or learning delays. The patient presently shows no evidence of recurrence or metastatic disease, and no additional malignant tumors have been identified. CONCLUSIONS: To our knowledge, this is the first report in the literature of a TSC patient without a history of neurocognitive disorders with RCC and PNET, both independently rare occurrences in TSC. The patient had a strong family history of renal disease, including RCC, and had several other clinical manifestations of TSC, including skin and brain findings. The incidental finding and surgical removal of RCC prompted the genetic evaluation and diagnosis of TSC, leading to a comparably late diagnosis for this patient. Reporting the broad spectrum of disease for TSC, including more malignant phenotypes such as the one seen in our patient, can help healthcare providers better identify patients who need genetic evaluation and additional medical care.


Subject(s)
Kidney Neoplasms , Tuberous Sclerosis , Humans , Tuberous Sclerosis/genetics , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosis , Female , Adult , Kidney Neoplasms/genetics , Kidney Neoplasms/diagnosis , Kidney Neoplasms/complications , Kidney Neoplasms/pathology , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/complications , Tuberous Sclerosis Complex 2 Protein/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Mutation
4.
PLoS One ; 19(5): e0300367, 2024.
Article in English | MEDLINE | ID: mdl-38696458

ABSTRACT

The consequences of partial nephrectomy (PN) compared to radical nephrectomy (RN) are less documented in patients with pre-existing chronic kidney disease (CKD) or with solitary kidney (SK). We assessed renal outcomes, and their determinants, after PN or RN in a retrospective cohort of patients with moderate-to-severe CKD (RN-CKD and PN-CKD) or SK (PN-SK). All surgical procedures conducted between 2013 and 2018 in our institution in patients with pre-operative estimated glomerular filtration rate (eGFR)<60 mL/min/1.73m2 or with SK were included. The primary outcome was a composite criterion including CKD progression or major adverse cardio-vascular events (MACE) or death, assessed one year after surgery. Predictors of the primary outcome were determined using multivariate analyses. A total of 173 procedures were included (67 RN, and 106 PN including 27 SK patients). Patients undergoing RN were older, with larger tumors. Preoperative eGFR was not significantly different between the groups. One year after surgery, PN-CKD was associated with lower rate of the primary outcome compared to RN-CKD (43% vs 71% p = 0.007). In multivariate analysis, independent risk factors for the primary outcome were postoperative AKI (stage 1 to stage 3 ranging from OR = 8.68, 95% CI 3.23-23.33, to OR = 28.87, 95% CI 4.77-167.61), larger tumor size (OR = 1.21 per cm, 95% CI 1.02-1.45), while preoperative eGFR, age, sex, diabetes mellitus, and hypertension were not. Postoperative AKI after PN or RN was the major independent determinant of worse outcomes (CKD progression, MACE, or death) one year after surgery.


Subject(s)
Glomerular Filtration Rate , Nephrectomy , Renal Insufficiency, Chronic , Humans , Nephrectomy/adverse effects , Nephrectomy/methods , Male , Female , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/surgery , Renal Insufficiency, Chronic/physiopathology , Retrospective Studies , Middle Aged , Aged , Risk Factors , Kidney Neoplasms/surgery , Kidney Neoplasms/complications , Postoperative Complications/etiology , Postoperative Complications/epidemiology , Treatment Outcome , Kidney/surgery , Kidney/physiopathology , Solitary Kidney/surgery , Solitary Kidney/complications
5.
Nutrients ; 16(9)2024 May 03.
Article in English | MEDLINE | ID: mdl-38732632

ABSTRACT

Nutritional therapy (NT) based on a controlled protein intake represents a cornerstone in managing chronic kidney disease (CKD). However, if a CKD patient is at the same time affected by cancer, oncologists and nutritionists tend to suggest a dietary regimen based on high protein intake to avoid catabolism and malnutrition. International guidelines are not clear when we consider onco-nephrological patients and, as a consequence, no clinical shared strategy is currently applied in clinical practice. In particular, no precise nutritional management is established in nephrectomized patients for renal cell carcinoma (RCC), a specific oncological cohort of patients whose sudden kidney removal forces the remnant one to start a compensatory mechanism of adaptive hyperfiltration. Our study aimed to investigate the efficacy of a low-normal-protein high-calorie (LNPHC) diet based on a Mediterranean model in a consecutive cohort of nephrectomized RCC patients using an integrated nephrologist and nutritionist approach. A consecutive cohort of 40 nephrectomized RCC adult (age > 18) patients who were screened for malnutrition (malnutrition screening tool, MST < 2) were enrolled in a tertiary institution between 2020 and 2022 after signing a specific informed consent form. Each patient underwent an initial nephrological and nutritional evaluation and was subsequently subjected to a conventional CKD LNPHC diet integrated with aproteic foods (0.8 g/Kg/die: calories: 30-35 kcal per kg body weight/die) for a period of 6 months (±2 months). The diet was structured after considering eGFR (CKD-EPI 2021 creatinine formula), comorbidities, and nutritional status. MST, body mass index (BMI), phase angle (PA), fat mass percentage (FM%), fat-free mass index (FFMI), body cell mass index (BCMI), extracellular/intracellular water ratio (ECW/ICW), extracellular matrix/body cell mass ratio (ECM/BCM), waist/hip circumference ratio (WHC), lab test exams, and clinical variables were examined at baseline and after the study period. Our results clearly highlighted that the LNPHC diet was able to significantly improve several nutritional parameters, avoiding malnutrition and catabolism. In particular, the LNPHC diet preserved the BCM index (delta on median, ΔM + 0.3 kg/m2) and reduced the ECM/BCM ratio (ΔM - 0.03 *), with a significant reduction in the ECW/ICW ratio (ΔM - 0.02 *), all while increasing TBW (ΔM + 2.3% *). The LNPHC diet was able to preserve FFM while simultaneously depleting FM and, moreover, it led to a significant reduction in urea (ΔM - 11 mg/dL **). In conclusion, the LNPHC diet represents a new important therapeutic strategy that should be considered when treating onco-nephrological patients with solitary kidney due to renal cancer.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Nephrectomy , Nutritional Status , Humans , Male , Kidney Neoplasms/surgery , Kidney Neoplasms/diet therapy , Kidney Neoplasms/complications , Female , Middle Aged , Aged , Carcinoma, Renal Cell/surgery , Carcinoma, Renal Cell/diet therapy , Malnutrition/etiology , Kidney/physiopathology , Diet, Mediterranean , Treatment Outcome , Renal Insufficiency, Chronic/diet therapy , Renal Insufficiency, Chronic/therapy
6.
Curr Oncol Rep ; 26(5): 573-582, 2024 05.
Article in English | MEDLINE | ID: mdl-38625653

ABSTRACT

PURPOSE OF REVIEW: To review the current status of kidney tumor ablation in patients with substantial kidney impairment. RECENT FINDINGS: Few reports of kidney tumor ablation in such patients have recently been published. The reported prevalence of patients with stage 4 or 5 chronic kidney disease (CKD) among patients undergoing ablation is 2.0%-10%. In patients with stage 4 or 5 CKD, local tumor control rates were 88%-100%. The effect of ablation on CKD stage is unclear, and the observed deteriorations in kidney function are consistent with both the effect of cryoablation and the natural course of advanced CKD. According to guidelines, active surveillance may be selected. The goals of treatment are complete tumor removal and maintenance of kidney function, both of which can be met by ablation. Given the limited treatment options, ablation may play a pivotal role in the management of patients with advanced CKD.


Subject(s)
Kidney Neoplasms , Renal Insufficiency, Chronic , Humans , Kidney Neoplasms/surgery , Kidney Neoplasms/pathology , Kidney Neoplasms/complications , Renal Insufficiency, Chronic/complications , Cryosurgery , Ablation Techniques/methods
7.
Clin Nucl Med ; 49(6): 557-558, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38598452

ABSTRACT

ABSTRACT: We report the successful application of radioembolization (SIRT) in a 77-year-old man with end-stage renal disease on hemodialysis and repeated episodes of macroscopic hematuria due to a large renal cell carcinoma of the right kidney extending to liver segment VI. A compassionate SIRT therapy was performed with resin microspheres through the upper pole renal artery and the feeding segmental artery of liver segment VI. Hematuria was resolved after treatment, and 4 months later, a follow-up CT scan revealed tumor size reduction and complete tumor necrosis (Response Evaluation Criteria in Solid Tumors criteria). Ablative SIRT therapy could be a safe and efficient option in a large inoperable RCC.


Subject(s)
Carcinoma, Renal Cell , Embolization, Therapeutic , Hematuria , Kidney Neoplasms , Humans , Male , Aged , Carcinoma, Renal Cell/diagnostic imaging , Carcinoma, Renal Cell/radiotherapy , Carcinoma, Renal Cell/complications , Carcinoma, Renal Cell/pathology , Hematuria/etiology , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/pathology , Kidney Neoplasms/radiotherapy , Kidney Neoplasms/complications , Necrosis , Liver Neoplasms/radiotherapy , Liver Neoplasms/diagnostic imaging , Liver Neoplasms/complications , Neoplasm Invasiveness , Liver/diagnostic imaging , Liver/pathology , Tomography, X-Ray Computed
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 56(2): 326-331, 2024 Apr 18.
Article in Chinese | MEDLINE | ID: mdl-38595253

ABSTRACT

OBJECTIVE: To investigate the effect of different surgical timing on the surgical treatment of renal angiomyolipoma (RAML) with rupture and hemorrhage. METHODS: The demographic data and perioperative data of 31 patients with rupture and hemorrhage of RAML admitted to our medical center from June 2013 to February 2023 were collected. The surgery within 7 days after hemorrhage was defined as a short-term surgery group, the surgery between 7 days and 6 months after hemorrhage was defined as a medium-term surgery group, and the surgery beyond 6 months after hemorrhage was defined as a long-term surgery group. The perioperative related indicators among the three groups were compared. RESULTS: This study collected 31 patients who underwent surgical treatment for RAML rupture and hemorrhage, of whom 13 were males and 18 were females, with an average age of (46.2±11.3) years. The short-term surgery group included 7 patients, the medium-term surgery group included 12 patients and the long-term surgery group included 12 patients. In terms of tumor diameter, the patients in the long-term surgery group were significantly lower than those in the recent surgery group [(6.6±2.4) cm vs. (10.0±3.0) cm, P=0.039]. In terms of operation time, the long-term surgery group was significantly shorter than the mid-term surgery group [(157.5±56.8) min vs. (254.8±80.1) min, P=0.006], and there was no significant difference between other groups. In terms of estimated blood loss during surgery, the long-term surgery group was significantly lower than the mid-term surgery group [35 (10, 100) mL vs. 650 (300, 1 200) mL, P < 0.001], and there was no significant difference between other groups. In terms of intraoperative blood transfusion, the long-term surgery group was significantly lower than the mid-term surgery group [0 (0, 0) mL vs. 200 (0, 700) mL, P=0.014], and there was no significant difference between other groups. In terms of postoperative hospitalization days, the long-term surgery group was significantly lower than the mid-term surgery group [5 (4, 7) d vs. 7 (6, 10) d, P=0.011], and there was no significant difference between other groups. CONCLUSION: We believe that for patients with RAML rupture and hemorrhage, reoperation for more than 6 months is a relatively safe time range, with minimal intraoperative bleeding. Therefore, it is more recommended to undergo surgical treatment after the hematoma is systematized through conservative treatment.


Subject(s)
Angiomyolipoma , Kidney Neoplasms , Male , Female , Humans , Adult , Middle Aged , Kidney Neoplasms/complications , Kidney Neoplasms/surgery , Kidney Neoplasms/pathology , Angiomyolipoma/complications , Angiomyolipoma/surgery , Angiomyolipoma/pathology , Hemorrhage/etiology , Hemorrhage/surgery , Rupture , Hospitalization , Retrospective Studies , Treatment Outcome
9.
World J Urol ; 42(1): 213, 2024 Apr 06.
Article in English | MEDLINE | ID: mdl-38581466

ABSTRACT

INTRODUCTION: There is limited evidence on the outcomes of robotic partial nephrectomy (RPN) and open partial nephrectomy (OPN) in obese patients (BMI ≥ 30 kg/m2). In this study, we aimed to compare perioperative and oncological outcomes of RPN and OPN. METHODS: We relied on data from patients who underwent PN from 2009 to 2017 at 16 departments of urology participating in the UroCCR network, which were collected prospectively. In an effort to adjust for potential confounders, a propensity-score matching was performed. Perioperative outcomes were compared between OPN and RPN patients. Disease-free survival (DFS) and overall survival (OS) were estimated using the Kaplan-Meier method and compared using the log-rank test. RESULTS: Overall, 1277 obese patients (932 robotic and 345 open were included. After propensity score matching, 166 OPN and 166 RPN individuals were considered for the study purposes; no statistically significant difference among baseline demographic or tumor-specific characteristics was present. A higher overall complication rate and major complications rate were recorded in the OPN group (37 vs. 25%, p = 0.01 and 21 vs. 10%, p = 0.007; respectively). The length of stay was also significantly longer in the OPN group, before and after propensity-score matching (p < 0.001). There were no significant differences in Warm ischemia time (p = 0.66), absolute change in eGFR (p = 0.45) and positive surgical margins (p = 0.12). At a median postoperative follow-up period of 24 (8-40) months, DFS and OS were similar in the two groups (all p > 0.05). CONCLUSIONS: In this study, RPN was associated with better perioperative outcomes (improvement of major complications rate and LOS) than OPN. The oncological outcomes were found to be similar between the two approaches.


Subject(s)
Kidney Neoplasms , Robotic Surgical Procedures , Humans , Kidney Neoplasms/complications , Kidney Neoplasms/surgery , Robotic Surgical Procedures/methods , Propensity Score , Nephrectomy/methods , Obesity/complications , Treatment Outcome , Retrospective Studies
12.
Am J Case Rep ; 25: e942826, 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38659203

ABSTRACT

BACKGROUND Wünderlich syndrome (WS) is a rare diagnosis of nontraumatic spontaneous renal hemorrhage into the subcapsular, perirenal, or pararenal spaces. Prompt and effective intervention is necessary for an accurate pathological diagnosis and preservation of life. In the current literature, open surgery is the primary option when conservative treatment fails, but there can be serious trauma and corresponding consequences. Herein, we present 3 cases of Wünderlich syndrome managed by robot-assisted laparoscopic nephrectomy via a retroperitoneal approach. CASE REPORT Patient 1 was a 44-year-old woman with right flank pain for 6 h. Patient 2 was a 53-year-old woman with a history of diabetes who had pain in her right flank pain and nausea for 1 day. Patient 3 was a 45-year-old man with left flank pain for 1 day. All cases of WS were confirmed by CT. All 3 patients were treated with retroperitoneal robot-assisted nephrectomy after conservative treatment failed. Pathological examination confirmed that patient 1 had angiomyolipoma, and patients 2 and 3 had renal clear cell carcinoma. At the 9-month follow-up, renal function was good and no evidence of recurrence or metastasis has been detected. CONCLUSIONS These cases have highlighted the importance of the clinical history and imaging findings in the diagnosis of Wünderlich syndrome, and show that rapid management can be achieved using robot-assisted laparoscopic nephrectomy. However, it is crucial to have a skilled surgical team and adequate preoperative preparation.


Subject(s)
Laparoscopy , Nephrectomy , Robotic Surgical Procedures , Humans , Nephrectomy/methods , Middle Aged , Male , Female , Adult , Syndrome , Kidney Diseases/surgery , Hemorrhage/surgery , Hemorrhage/etiology , Kidney Neoplasms/surgery , Kidney Neoplasms/complications , Angiomyolipoma/surgery , Angiomyolipoma/complications , Angiomyolipoma/diagnostic imaging , Carcinoma, Renal Cell/surgery , Carcinoma, Renal Cell/complications
13.
BMJ Case Rep ; 17(4)2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38684355

ABSTRACT

A female patient in her 70s with a newly diagnosed clear cell renal cell carcinoma (ccRCC) with osseous metastasis presented with sudden onset erythematous painful blistering skin lesions on the dorsum of both hands, with associated intermittent fever episodes. Blood tests showed elevated inflammatory marker levels (C reactive protein 257.8 mg/dL, leucocytes 17.79×109/L, with 94% neutrophils). Histologically, there was predominately neutrophil dermal infiltrate without leucocytoclastic vasculitis. The diagnostic criteria of Sweet syndrome were fulfilled. A week later, the patient developed abrupt left-hand palsy, which was confirmed as a medial and ulnar sensorimotor axonal peripheral neuropathy of paraneoplastic origin. The patient was prescribed a course of oral high-dose steroids, which significantly improved the skin lesions. The peripheral nerve palsy improved after 3 months. This case describes the two very rare concurrent paraneoplastic manifestations of ccRCC occurring simultaneously, which have been rarely reported.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Sweet Syndrome , Humans , Sweet Syndrome/diagnosis , Sweet Syndrome/drug therapy , Sweet Syndrome/complications , Carcinoma, Renal Cell/secondary , Carcinoma, Renal Cell/complications , Female , Kidney Neoplasms/pathology , Kidney Neoplasms/complications , Aged , Peripheral Nervous System Diseases/etiology , Peripheral Nervous System Diseases/diagnosis , Bone Neoplasms/secondary , Bone Neoplasms/complications
14.
Acta Gastroenterol Belg ; 87(1): 40-43, 2024.
Article in English | MEDLINE | ID: mdl-38431790

ABSTRACT

The authors report the case of a 74-years-old woman treated by immunotherapy for a metastatic renal cell carcinoma and having developed an important cholestasis with thrombocytosis, increased CRP, leucocytosis and hypoalbuminemia. Liver remained free of metastases at medical imaging. The diagnosis of a Stauffer syndrome was confirmed by the hepatic biopsy. A complete response of liver disorders was obtained after nephrectomy. From literature survey, Stauffer syndrome should be kept in mind in cancer patients, especially those suffering from a renal cell carcinoma, presenting with cholestasis with no underlying cause.


Subject(s)
Carcinoma, Renal Cell , Cholestasis , Kidney Neoplasms , Liver Diseases , Female , Humans , Aged , Carcinoma, Renal Cell/complications , Carcinoma, Renal Cell/diagnosis , Kidney Neoplasms/complications , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Syndrome , Liver Diseases/diagnosis , Cholestasis/complications
16.
Kidney Blood Press Res ; 49(1): 228-238, 2024.
Article in English | MEDLINE | ID: mdl-38471493

ABSTRACT

INTRODUCTION: Upper urinary tract stones combined with parenchymal infiltrative renal pelvic cancer are challenging to detect on imaging and to evaluate the differential diagnosis. CASE PRESENTATION: The symptoms and diagnoses in three cases of parenchymal infiltrative renal pelvic cancer and upper urinary tract stones that occurred between June 2019 and June 2022 were reviewed. Primary symptoms of lumbar discomfort and hematuria were evident in all 3 patients. Preoperative computed tomography (CT) abdominal imaging revealed that all three cases had hydronephrosis along with renal stones, while the other two cases only had localized hypoenhancement of the renal parenchyma, which was only thought to be limited inflammatory changes in the renal cortex as a result of the combination of renal pelvis infection. After percutaneous nephrolithotomy or ureteroscopic lithotripsy, a combined renal pelvis tumor was discovered in all of these instances. Radical tumor surgery was later performed. One patient who had several tumor metastases passed away 6 months after surgery. A case with multiple metastases was discovered 15 months after surgery and survived with the help of the current chemotherapy. A case with a bladder tumor recurrence was discovered 16 months after surgery and had transurethral bladder tumor electrosurgery and routine bladder perfusion chemotherapy. CONCLUSION: Upper urinary tract stones and parenchymal infiltrative pyel carcinoma have atypical imaging, easily confused with infectious diseases. CT or computed tomography urography (CTU) must be considered by urologists. Patients who have a CT with local renal parenchyma density should be suspected of having parenchymal invasive renal pelvis carcinoma; a needle biopsy ought to be performed; and repeat biopsies may be performed if necessary. High-risk individuals need multiple, sufficient biopsies as needed and a comprehensive intraoperative assessment of the renal pelvic mucosa.


Subject(s)
Kidney Neoplasms , Kidney Pelvis , Humans , Kidney Neoplasms/complications , Kidney Neoplasms/pathology , Kidney Pelvis/pathology , Kidney Pelvis/diagnostic imaging , Middle Aged , Male , Female , Kidney Calculi/complications , Aged , Tomography, X-Ray Computed
17.
Orphanet J Rare Dis ; 19(1): 106, 2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38459571

ABSTRACT

Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. Given the complexity of this disease, multidisciplinary care in specialized TSC centres is recommended. We aimed to elucidate the state of knowledge of patients/caregivers and physicians on individual disease manifestations. We further examined whether the association to a TSC centre has an impact on the comprehensive consideration of potential disease manifestations. Therefore, a survey was performed in a cohort of German TSC patients and their physicians. Complete information was available for 94 patients with a median age of 18 years [range 1-55] and a sex distribution of 53.2% (male): 48.8% (female). Using almost identical questionnaires for patients/caregivers and their respective physician, there was a good correlation for disease assessments associated with relevant morbidity and mortality like epilepsy, renal angiomyolipoma, cardiac rhabdomyomas or intellectual disability. Correlation was moderate for several neuropsychiatric disorders and only poor for hypomelanotic macules, dental pits or retinal achromic patches. Estimation of overall disease severity using a numeric rating scale correlated highly significantly (Pearson correlation coefficient = 0.767; p < 0.001) between patients/caregivers and physicians. In general, physicians more likely quoted items as 'unknown' than patients (822 answers vs. 435 answers in the respective groups). Questionnaires completed by physicians who were associated with a specialized TSC centre declared a significantly lower proportion of items as unknown (mean 8.7% vs. 20.5%; p < 0.001). These findings indicate that patients treated by specialized TSC centres seem to obtain a more comprehensive surveillance. Furthermore, it shows that there were reasonable surveillance strategies in general and sufficient patient/caregiver interaction and education in the examined cohort. However, for the most prominent disease characteristics there was a good awareness within both the patients/caregivers and the physicians group.


Subject(s)
Angiomyolipoma , Intellectual Disability , Kidney Neoplasms , Physicians , Tuberous Sclerosis , Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged , Angiomyolipoma/epidemiology , Tuberous Sclerosis/complications , Kidney Neoplasms/complications , Patient Acuity
18.
Orphanet J Rare Dis ; 19(1): 137, 2024 Mar 26.
Article in English | MEDLINE | ID: mdl-38532450

ABSTRACT

BACKGROUND: Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective audit of patients with TSC-LAM attending a national referral centre to inform management guidelines. METHODS: The UK LAM Centre was established in 2011 and conducts a prospective audit of pre-defined quality outcomes for all subjects. Audit data are reported on all patients with TSC-LAM and a comparator population of patients with sporadic LAM. RESULTS: Between 2011 and 2022, 73 patients were seen with TSC-LAM. All were women with a mean (SD) age of 39 (12) years. Referral rates were similar over the study period including after the introduction of CT screening. Median age of diagnosis with TSC was 11 years (range 0-70) with one third diagnosed with TSC as adults. Compared with all TSC patients in the 'TOSCA' registry, TSC-LAM patients tended to have been diagnosed with TSC at an older age, had fewer neuro-cognitive manifestations and were more likely to have angiomyolipoma. The most common presentations of TSC-LAM were following workup for angiomyolipoma, pneumothorax or dyspnoea with only one fifth detected after CT screening. Baseline FEV1 and DLCO at first assessment were reduced to 77 and 63% predicted respectively and were similar to patients with sporadic LAM. During follow-up, FEV1 fell by a mean of 81 ml/year and DLCO fell by 0.309 mmol/ml/kPa/year in patients not being treated with an mTOR inhibitor. 55% required treatment with either sirolimus or Everolimus for LAM or angiomyolipoma respectively. For those treated with an mTOR inhibitor, mean FEV1 fell by 3 ml/year and DLCO increased by 0.032 mmol/ml/kPa/year and was similar to sporadic LAM. Risk of death due to LAM or need for lung transplant in patients with TSC-LAM was 0.67%/year. CONCLUSIONS: Despite screening recommendations, LAM is often diagnosed in TSC after symptoms develop which may delay treatment. Complications including pneumothorax and loss of lung function are significant and similar to sporadic LAM. Work is needed to implement the recommended CT screening for LAM and improve respiratory care for TSC-LAM.


Subject(s)
Angiomyolipoma , Kidney Neoplasms , Lymphangioleiomyomatosis , Pneumothorax , Tuberous Sclerosis , Adult , Humans , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Young Adult , Middle Aged , Aged , Male , Tuberous Sclerosis/complications , Kidney Neoplasms/complications , TOR Serine-Threonine Kinases
19.
J Cancer Res Ther ; 20(1): 482-484, 2024 Jan 01.
Article in English | MEDLINE | ID: mdl-38554371

ABSTRACT

Renal cell carcinoma (RCC) with heterotopic formation has been reported very rarely. We report this rare entity in a 33-year-old female patient who came to the out-patient department after complaining of pain in the lumbar region of the left side for 2 years. A computed tomography scan showed a heterogeneously enhancing lesion originating from the posterior cortex of the left kidney in the upper pole. It had many chunky calcification foci and was treated with left robotic partial nephrectomy. Histo-pathological examination revealed clear cell RCC with the heterotopic bone formation with a tumor size measuring 5 × 4 × 2.5 cm; the tumor was limited to the kidney, and the tumor resection margin were free of tumor, WHO/ISUP Grade 2. The pathological stage (AJCC 8th edition PTNM) was p T1b p NX p MX. The prognostic implications regarding calcification are poorly addressed in the literature. Patients suffering from osseous metaplasia are often in their early stages of the disease and have a favorable prognosis.


Subject(s)
Calcinosis , Carcinoma, Renal Cell , Kidney Neoplasms , Ossification, Heterotopic , Adult , Female , Humans , Calcinosis/pathology , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/surgery , Carcinoma, Renal Cell/pathology , Kidney/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/surgery , Kidney Neoplasms/complications , Nephrectomy , Ossification, Heterotopic/diagnosis , Ossification, Heterotopic/surgery , Ossification, Heterotopic/etiology
20.
Medicine (Baltimore) ; 103(13): e37639, 2024 Mar 29.
Article in English | MEDLINE | ID: mdl-38552083

ABSTRACT

RATIONALE: Renal cell carcinoma (RCC) is the most common renal neoplasm, accounting for 2.4% of all cancers in Korea. Although the usual clinical manifestations of RCC include flank pain, hematuria, and palpable mass, RCC is generally characterized by a lack of early warning signs and is mostly discovered incidentally in advanced stage. This case report describes a 42-year-old Korean man diagnosed with giant RCC who presented with simple back pain. PATIENT CONCERNS: The clinical manifestation of a 42-year-old Korean man was chronic back pain. DIAGNOSES: Contrast-enhanced computed tomography showed a 19.1-cm sized heterogeneous enhancing mass on the right kidney and tumor thrombosis extending into inferior vena cava. INTERVENTION: Due to the large size of the tumor and extensive tumor thrombosis, the multidisciplinary team decided to administer neoadjuvant chemotherapy and an anticoagulant. Following 12 cycles of treatment with nivolumab and cabozantinib, he underwent a right radical nephrectomy with an adrenalectomy and tumor thrombectomy. OUTCOMES: Treatment was successful and posttreatment he started a cancer rehabilitation program. He was followed-up as an outpatient and no longer complains of back pain. LESSONS: RCC can manifest clinically as back pain, with diagnosis being difficult without appropriate imaging modalities. RCC should be included in the differential diagnosis of patients with low back pain, even at a young age.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Low Back Pain , Thrombosis , Male , Humans , Adult , Carcinoma, Renal Cell/complications , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/surgery , Low Back Pain/etiology , Low Back Pain/pathology , Kidney Neoplasms/complications , Kidney Neoplasms/diagnosis , Kidney Neoplasms/surgery , Kidney/pathology , Vena Cava, Inferior/diagnostic imaging , Vena Cava, Inferior/pathology , Thrombosis/pathology , Nephrectomy/methods , Thrombectomy/methods
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