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.

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 Tuberous Sclerosis Complex Axis Controls Renal Extracellular Vesicle Production and Protein Content

2020 ◽  
Vol 21 (5) ◽  
pp. 1729 ◽  
Author(s):  
Fahad Zadjali ◽  
Prashant Kumar ◽  
Ying Yao ◽  
Daniel Johnson ◽  
Aristotelis Astrinidis ◽  
...  
Keyword(s):  
Protein Content ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Growth Regulation ◽  
Primary Cilia ◽  
Collecting Duct ◽  
Extracellular Vesicle ◽  
Size Exclusion ◽  
Chromatography Method ◽  
Significant Difference

The tuberous sclerosis complex (Tsc) proteins regulate the conserved mTORC1 growth regulation pathway. We identified that loss of the Tsc2 gene in mouse inner medullary collecting duct (mIMCD) cells induced a greater than two-fold increase in extracellular vesicle (EV) production compared to the same cells having an intact Tsc axis. We optimized EV isolation using a well-established size exclusion chromatography method to produce high purity EVs. Electron microscopy confirmed the purity and spherical shape of EVs. Both tunable resistive pulse sensing (TRPS) and dynamic light scattering (DLS) demonstrated that the isolated EVs possessed a heterogenous size distribution. Approximately 90% of the EVs were in the 100–250 nm size range, while approximately 10% had a size greater than 250 nm. Western blot analysis using proteins isolated from the EVs revealed the cellular proteins Alix and TSG101, the transmembrane proteins CD63, CD81, and CD9, and the primary cilia Hedgehog signaling-related protein Arl13b. Proteomic analysis of EVs identified a significant difference between the Tsc2-intact and Tsc2-deleted cell that correlated well with the increased production. The EVs may be involved in tissue homeostasis and cause disease by overproduction and altered protein content. The EVs released by renal cyst epithelia in TSC complex may serve as a tool to discover the mechanism of TSC cystogenesis and in developing potential therapeutic strategies.

scholarly journals Short-term effects of dietary sodium intake on bone metabolism in postmenopausal women measured using urinary deoxypyridinoline excretion

1997 ◽  
Vol 78 (1) ◽  
pp. 73-82 ◽  
Author(s):  
Georg Lietz ◽  
Alison Avenell ◽  
Simon P Robins
Keyword(s):  
Parathyroid Hormone ◽  
Bone Resorption ◽  
Bone Metabolism ◽  
Postmenopausal Women ◽  
Significant Relationship ◽  
Sodium Intake ◽  
Dietary Sodium ◽  
Intact Parathyroid Hormone ◽  
Short Term ◽  
Significant Difference

The influence of Na load on bone metabolism was investigated in postmenopausal women using urinary deoxypyridinoline (DPD) as a marker of bone resorption. In a cross-over study, fourteen postmenopausal women were divided into two groups of seven. A fixed diet providing 816 mg Ca/d with either 60 or 170 mmol Na/d was consumed. At the end of an 8 d period the groups switched diets for a further 8d period. Urine was collected daily for the last 4d of each period. There was no significant difference in DPD excretion between high-Na and low-Na diets (129 nmol/d v. 132 nmol/d; P = 0·18). There was, however, a significant relationship (P = 0·02) between the changes in DPD excretion and urinary Ca. Plasma Mg fell from 0·83 to 0·81mmol/l on the high Na intake (P<0·001), but there was no significant effect on plasma Ca or intact parathyroid hormone levels. It is concluded that varying dietary Na intake may affect Ca and Mg metabolism, but we were unable to demonstrate an effect on bone resorption at the levels of intake used

scholarly journals Parathyroidectomy May Cause Remission of Uraemic Tumoral Calcinosis in Haemodialysis Patients

2022 ◽  
Author(s):  
Haiting Huang ◽  
Jun Lu ◽  
Pengwei Guo ◽  
Jun Pang ◽  
Jing Ma ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Parathyroid Hormone ◽  
Calcium Supplementation ◽  
Tumoral Calcinosis ◽  
Calcium Deposition ◽  
Intact Parathyroid Hormone ◽  
Metastatic Calcification ◽  
Significant Difference ◽  
The Masses ◽  
Stage Renal Disease

AbstractFew cases of uraemic tumoral calcinosis (UTC) have been reported. This study aimed to investigate the clinical efficacy of parathyroidectomy for UTC. Historical clinical data of patients with end-stage renal disease and UTC who underwent parathyroidectomy were analysed. Absorption of metastatic calcification was compared before and after operation. Changes in intact parathyroid hormone, serum calcium, phosphorus, and alkaline phosphatase levels were analysed before parathyroidectomy and at 1 week and 3, 6, and 12 months after parathyroidectomy. Eight patients met the enrolment criteria (men, 6; mean age, 38.6 SD 10.9 years). Uraemic tumoral calcinosis, which developed 2–8 years after dialysis began, was caused by secondary hyperparathyroidism. Massive calcium deposition was found in the shoulder (n = 6), hip (n = 3), and elbow (n = 2). Four patients had > 2 joints affected, and a single joint was involved for four patients. Seven patients had rapid remission (< 6 months) of the masses after parathyroidectomy. In one patient, the mass remained unabsorbed until 6 months postoperatively. Hypocalcaemia occurred in all patients where parathyroidectomy was successful, and calcium supplementation was required 1 year postoperatively. Serum intact parathyroid hormone levels on day 7 and at 3 and 6 months postoperatively decreased significantly from baseline and remained low 1 year postoperatively (22.015 SD33.134 pg/mL). Postoperative phosphorus levels were significantly lower than preoperative levels (p < 0.05), but no significant difference was found in alkaline phosphatase levels (p > 0.05). Parathyroidectomy has promising efficacy for UTC treatment and regulation of serum intact parathyroid hormone and phosphorus. Hypocalcaemia is a common complication after parathyroidectomy. Current Controlled Trials ChiCTR2000041311, date of registration: Dec. 23, 2020.

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.

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.

scholarly journals Association of mineral metabolism biomarkers with chronic kidney disease in Chinese adults

2021 ◽  
Author(s):  
Jialin Li ◽  
Danni He ◽  
Wenjing Zhao ◽  
Xi’ai Wu ◽  
Minjing Luo ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Parathyroid Hormone ◽  
Kidney Disease ◽  
Serum Calcium ◽  
Mineral Metabolism ◽  
Inorganic Phosphorus ◽  
Intact Parathyroid Hormone ◽  
Chinese Adults ◽  
Increased Risk ◽  
Advanced Stages

AbstractBackgroundWe aimed to examine the association of three mineral metabolism markers, including serum calcium, inorganic phosphorus, and intact parathyroid hormone with the risk of chronic kidney disease (CKD) at all stages.MethodsThis retrospective cohort study involved 3563 participants, including 3274 CKD patients and 289 healthy controls. CKD is diagnosed according to clinical guidelines from the 2012 KDIGO. Effect sizes are expressed odds ratio (OR) and 95 confidence interval (CI).ResultsAfter propensity score matching, per 0.5 mg/dL increment of inorganic phosphorus was significantly associated with 1.33-, 1.61-, and 2.85-fold increased risk of CKD at stages 1–2, 4, and 5, respectively. Regarding per 8 pg/mL increment of intact parathyroid hormone, significance was only noted for stage 5. In subsidiary analyses, the risk prediction of mineral metabolism markers under study was more evident in males and hypertensive subjects. A nomogram prediction model was constructed based on age, sex, and three mineral metabolism markers for CKD, with decent accuracy.ConclusionsOur findings indicate that serum calcium was associated with all-stage CKD risk, whereas the association for inorganic phosphorus and intact parathyroid hormone was significant at advanced stages.

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