scholarly journals The characteristics and optimal treatment of urolithiasis associated with tuberous sclerosis complex

2021 ◽  
Author(s):  
Takashi Hatano ◽  
Katsuhisa Endo
Keyword(s):  
Specific Gravity ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Multivariate Logistic Regression Analysis ◽  
Renal Cysts ◽  
Urine Specific Gravity ◽  
Urine Ph ◽  
Extracorporeal Shock Wave ◽  
Increased Risk ◽  
Treatment Of Urolithiasis

Abstract Purpose The most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC also develop urolithiasis. We retrospectively investigated the characteristics and treatment of urolithiasis associated with TSC. Methods We analyzed 142 patients who met the diagnostic criteria for TSC, of whom 20 (14.1%) had urolithiasis. We compared the patients’ characteristics, urinary specific gravity, urine pH, serum calcium and intact parathyroid hormone in the urolithiasis and non-urolithiasis groups. In the urolithiasis group, the stone characteristics and various treatments were analyzed. Results The antiepileptic drugs topiramate and zonisamide were more frequently administered to the urolithiasis group than the non-urolithiasis group (P = 0.013, P = 0.048, respectively). The urine specific gravity and urine pH levels were higher in the urolithiasis group than in the non-urolithiasis group (P = 0.005, P = 0.042, respectively). A multivariate logistic regression analysis demonstrated that urine-specific gravity (P = 0.018; odds ratio 1.471; 95% confidence interval 1.098–1.872) was a significant predictor of TSC-associated urolithiasis. Four patients could not receive extracorporeal shock wave lithotripsy due to the risk of bleeding from the AML. Conclusion Patients with TSC who have an increased urine specific gravity, alkaline urine, and a longer administration of topiramate and zonisamide tend to demonstrate an increased risk of developing urolithiasis and therefore such cases require adequate care. If urolithiasis is comorbid with TSC-associated AML, the treatment options are more limited in cases with multiple AMLs around the stone due to an increased risk of hemorrhage.

scholarly journals Management of urolithiasis associated with tuberous sclerosis complex

2019 ◽  
Author(s):  
Takashi Hatano ◽  
Yu Imai ◽  
Kei-ichiro Mori ◽  
Jun Moritake ◽  
Katsuhisa Endo ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Specific Gravity ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Urine Specific Gravity ◽  
Intact Parathyroid Hormone ◽  
Urine Ph ◽  
Extracorporeal Shock Wave ◽  
Increased Risk ◽  
Significant Difference

Abstract The most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC also develop urolithiasis. In this study, we evaluated the incidence, risk factors and clinical courses of TSC-associated urolithiasis. We analyzed a total of 102 patients who met the diagnostic criteria for TSC, of whom 15 (14.7%) had urolithiasis. We compared urinary specific gravity, urine pH, serum calcium, intact parathyroid hormone and the use of antiepileptic agents of the urolithiasis and non-urolithiasis groups. The urine specific gravity and urine pH were higher in the urolithiasis group than in the non-urolithiasis group (P = 0.005, P = 0.042, respectively). No significant difference was found between the two groups with regard to the serum corrected calcium and intact parathyroid hormone levels. The antiepileptic drugs topiramate and zonisamide were more frequently administered to the urolithiasis group than the non-urolithiasis group (P <0.001, P = 0.039, respectively). Four patients in the urolithiasis group underwent surgery. Three patients could not receive extracorporeal shock wave lithotripsy due to the risk of bleeding from the AML, and therefore underwent transurethral lithotripsy. If urolithiasis is comorbid with TSC-associated AML, the treatment options are more limited in cases with multiple AMLs around the stone due to an increased risk of hemorrhage. Prevention and early detection of urolithiasis are beneficial to patients with TSC.

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Tuberous sclerosis complex: Hamartin and tuberin expression in renal cysts and its discordant expression in renal neoplasms

2016 ◽  
Vol 212 (11) ◽  
pp. 972-979 ◽  
Author(s):  
Stephen M. Bonsib ◽  
Christie Boils ◽  
Neriman Gokden ◽  
David Grignon ◽  
Xin Gu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cysts ◽  
Renal Neoplasms

scholarly journals Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidharth K. Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours

2003 ◽  
Vol 31 (3) ◽  
pp. 597-602 ◽  
Author(s):  
M.A. Knowles ◽  
N. Hornigold ◽  
E. Pitt
Keyword(s):  
Bladder Cancer ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Bladder Tumour ◽  
Gene Replacement ◽  
Tumour Suppressor Genes ◽  
Genetic Changes ◽  
Increased Risk ◽  
Tsc1 Gene ◽  
Wide Range

In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulation is implicated in a wide range of human malignancies, raises the possibility that their inactivation could contribute to the development of some sporadic cancers. To date the only evidence for this comes from the finding of mutations of TSC1 in bladder cancer. The mutation spectrum of TSC1 in bladder cancer and functional evidence from TSC1-gene-replacement studies in bladder tumour cells will be presented. The literature on genetic changes in several other sporadic epithelial cancers reveals relatively common deletions in the region of the TSC genes. In ovarian and gall bladder carcinoma and non-small-cell carcinoma of the lung, deletions in both 16p13 and 9q34 are found at significant frequency. Mutation analyses in such tumours are now merited.

Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex

2014 ◽  
Vol 46 (9) ◽  
pp. 1685-1690 ◽  
Author(s):  
Jeng-Dau Tsai ◽  
Chang-Ching Wei ◽  
Shan-Ming Chen ◽  
Ko-Huang Lue ◽  
Ji-Nan Sheu
Keyword(s):  
Growth Rate ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cysts

scholarly journals Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different conditions of TSC1/2 genetic mutations

2020 ◽  
Author(s):  
Wenda Wang ◽  
Yang Zhao ◽  
Xu Wang ◽  
Zhan Wang ◽  
Guoyang Zheng ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Cysts ◽  
Genetic Mutations ◽  
Imaging Evaluation ◽  
Female Ratio ◽  
Renal Lesions ◽  
Significant Difference ◽  
Male Female Ratio ◽  
And Function

Abstract Objective The renal manifestations of tuberous sclerosis complex (TSC) are complicated and various. We’d like to report the information of genetic mutations in TSC patients with renal lesions, and to discuss the relationship between features of renal lesions and genetic mutations, including mutant genes and mutant types. Methods TSC patients with renal lesions who came to Urology Department of our hospital from January 1st, 2015 to January 1st, 2020 were retrospectively analyzed. TSC patients who received next generation sequencing (NGS) of TSC1/2 and imaging examinations were screened out. When familial TSC patients were confirmed, only the probands were included. The patients who had imaging evaluation in our hospital before any treatment for TSC renal angiomyolipomas (AMLs) were also selected for further analysis of relationship between genetic mutations and AML sizes. Results 70 clinically or genetically diagnosed TSC patients with renal lesions were included. The average age was 29.3±8.3 years old. Male-female ratio was 1:1.5. 15 patients (21.4%) were probands of TSC families (3 TSC1 , 10 TSC2 , and 2 NMI). 67 patients (95.8%) had bilateral renal AMLs with one patient had a pathological diagnosis of epithelioid AML ( TSC2 mutation). One patient had multiple renal cysts ( TSC2 mutation), one had renal cell carcinomas (RCCs) ( TSC1 mutation) and one had Wilms tumors ( TSC1 mutation). Among the 70 included patients, 4 patients had TSC1 mutations, 51 had TSC2 mutations, and 15 had no mutation identified (NMI). There was no statistically significant difference between TSC2 mutations and NMI groups (11.4±5.7 vs. 8.0±5.6cm, P = 0.077) when considering AML sizes. There was also no statistically significant difference among AML sizes of patients with TSC2 mutation types of nonsense, missense, frameshift, slipping, and fragment deletion ( P = 0.712). And no statistically significant difference was found between maximus diameters in familial and sporadic patients, either (11.4±5.8 vs. 10.5±5.8, P = 0.663). Conclusions The conditions of TSC genetic mutations will affect type and severity of renal lesions. Other focuses such as protein structure and function need to be studied for renal manifestations. Except for patients with TSC1 and TSC2 genetic mutations, patients with NMI and familial patients are also needed more attention for the pathogenesis of them is still unknown.

scholarly journals PO-016 Applied Research of training session RPE and blood lactic acid of Elite Woman Wrestlers before Competitions

2018 ◽  
Vol 1 (3) ◽  
Author(s):  
Bin Tang
Keyword(s):  
Lactic Acid ◽  
Specific Gravity ◽  
Correlation Coefficient ◽  
Ph Value ◽  
Training Session ◽  
Urine Specific Gravity ◽  
Urine Protein ◽  
Urine Ph ◽  
Intensive Training ◽  
Set Up

Objective By testing and analyzing the training session RPE, blood lactic acid, urine protein, urine specific gravity and urine pH value of elite woman wrestlers, investigated variation and score differences of the elite woman wrestlers ' five indicators during the four weeks before the elite woman wrestlers championship, to provide a reference for scientific training. Methods 12 elite woman wrestlers completed 24 special training session, 16 strength training session and 12 cardio workout session before four weeks in the elite woman wrestlers championship. The degree of fatigue of athletes in this section were scored within 5 minutes after the end of each training session using Borg 15 subscales, scores were dictated and record. Training session RPE was calculated by the training session time multiplied RPE, daily and weekly training session RPE (sRPE) was counted respectively. The blood lactic acid after intensive training and the daily urine protein, urine specific gravity , urine pH value of elite woman wrestlers were tested using EKF lactateScout appearance of portable blood lactate and blood lactic acid test strip and using Roche Miditron Junior Ⅱsemi-automatic urine analyzer and supporting Comber 10 test M urinary ten test strip, in accordance with standard test procedures.In this study, the measured indicators were analyzed statistically by SPSS19.0 and the measured indicators were expressed as mean±standard deviation(X±S).The total amount of training sRPE that reflected the six weeks was tested by repeated measures analyzing of variance of repeated measures.Differences of the first week and the other five weeks was compared respectively, the level of significance was set up as α=0.05.The correlation of training sRPE, the blood lactic acid after intensive training, urine protein, urine specific gravity and urine pH values was tested by Pearson correlation analysis, P < 0.05 was set up a significant difference,P <0.01 was set up a very significant difference,|r|<0.3 was believed with no correlation. Results The total sRPE of elite woman wrestlers decreased gradually before four weeks in the national championship.Special training session sRPE and strength training session sRPE reach a higher level respectively in the second week and the third week.The aerobic workout sRPE maintained at a lower level during four weeks. The correlation coefficient of elite woman wrestlers' sRPE、urine specific gravity and urine pH value was negative.The correlation coefficient of elite woman wrestlers' sRPE, the blood lactic acid after intensive training and urinary protein was positive, showed a different relationship. The correlation coefficient of elite woman wrestlers' sRPE, the blood lactic acid after intensive training and urine protein is|r|>0.3,there is a low degree of correlation.Other indicators showed no significant correlation. Conclusions Training session RPE is a effective and operational noninvasive method of evaluating women's soccer training. The blood lactic acid after intensive training, urine protein, urine specific gravity and urine pH value is relatively sensitive indicator of reflecting the volume and the intensity of training.Five test indicators will be affectd by the athletes' different athletic level.

Comparison of Point-of-Care Testing Methods and Laboratory Analysis for Assessing Urine Specific Gravity and pH of Children Undergoing Chemotherapy

2020 ◽  
Vol 38 (1) ◽  
pp. 6-15
Author(s):  
Karen Kalbfeld ◽  
Janet A. Parkosewich ◽  
Wei Teng ◽  
Marjorie Funk
Keyword(s):  
Specific Gravity ◽  
Medical Center ◽  
Point Of Care ◽  
Academic Medical Center ◽  
Chemotherapeutic Agents ◽  
Laboratory Analysis ◽  
Urine Specific Gravity ◽  
Testing Methods ◽  
Urine Ph ◽  
Urine Testing

Background To reduce the risk of renal toxicity, urine specific gravity (SG) and pH (potential of hydrogen) parameters should be met before nephrotoxic chemotherapeutic agents are administered. The purpose of this study was to compare laboratory urine SG and pH values with those obtained with urine point-of-care (POC) testing methods commonly used when caring for children receiving nephrotoxic chemotherapeutic agents. Method A method-comparison design was used to compare the values of three POC methods for SG (dipstick, automated dipstick reader, refractometer) and three pH (dipstick, automated dipstick reader, litmus paper) methods with laboratory analysis of 86 urine samples from 43 children hospitalized on a pediatric hematology oncology unit in a large academic medical center. The Bland–Altman method was used to calculate bias and precision between POC and laboratory values. Results Except for the SG refractometer, bias values from Bland–Altman graphs demonstrated poor agreement between POC and laboratory urine SG and pH results. The precision values between these methods indicated overestimation or underestimation of hydration or urine pH status. Compared with laboratory methods, 31% of POC visual reading of dipstick SG values were falsely low—putting the patient at risk of not receiving necessary hydration and subsequent nephrotoxicity. Discussion In conclusion, most POC urine testing methods for SG and pH are not accurate compared with laboratory analysis. Because laboratory analyses can take longer than POC methods to obtain results, clinicians need to collaborate with laboratory medicine to ensure that an expedited process is in place in order to prevent chemotherapy administration delays.

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