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Hypocitraturia

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https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#1
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28220601/multiple-sclerosis-and-nephrolithiasis-a-matched-case-comparative-study
#2
Vishnu Ganesan, Wen Min Chen, Rajat Jain, Shubha De, Manoj Monga
OBJECTIVE: To compare stone composition and serum/urine biochemistries in stone formers with multiple sclerosis (MS) against stone formers without MS and to examine the association between mobility, methods of bladder emptying, and stone formation. MATERIALS AND METHODS: In this retrospective case-control study, we identified patients diagnosed with multiple sclerosis and kidney stone disease who were seen at our institution between 2001 and 2016. For the first part of the study, up to 2 controls (stone formers without a history of MS) were identified for each case and matched on age, body mass index (BMI), and sex...
February 20, 2017: BJU International
https://www.readbyqxmd.com/read/28188435/marked-increase-in-urinary-excretion-of-apolipoproteins-in-children-with-nephrolithiasis-associated-with-hypercalciuria
#3
Larisa Kovacevic, Hong Lu, Joseph A Caruso, Tuhina Govil-Dalela, Ronald Thomas, Yegappan Lakshmanan
BACKGROUND: Using a proteomic approach, we aimed to identify and compare the urinary excretion of proteins involved in lipid transport and metabolism in children with kidney stones and hypercalciuria (CAL), hypocitraturia (CIT), and normal metabolic work-up (NM), and in healthy controls (HCs). Additionally, we aimed to confirm these results using ELISA, and to examine the relationship between the urinary excretion of selected proteins with demographic, dietary, blood, and urinary parameters...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27994868/outcomes-of-living-kidney-donors-with-medullary-sponge-kidney
#4
Wisit Cheungpasitporn, Charat Thongprayoon, Brady A Brabec, Wonngarm Kittanamongkolchai, Stephen B Erickson
BACKGROUND: Patients with medullary sponge kidney (MSK) commonly encounter recurrent nephrolithiasis. The existing knowledge on safety of donors with MSK has not been studied. METHODS: We conducted a retrospective cohort study at a tertiary referral hospital to assess the outcomes of living kidney donors with MSK. All adults with MSK (N = 26) who underwent nephrectomy as living kidney donors between January 2000 and September 2014 were included. Non-donors with MSK (N = 78) were randomly selected by matching the year of birth and the comorbidity score with a ratio of 1:3 for comparison...
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27936931/characterization-of-urolithiasis-in-patients-following-lower-urinary-tract-reconstruction-with-intestinal-segments
#5
Tracy Marien, Jennifer Robles, Trisha M Kammann, Mustafa Kadihasanoglu, Davis P Viprakasit, S Duke Herrell, Nicole L Miller
PURPOSE: Urinary diversion and augmentation cystoplasty are associated with long-term complications, including metabolic derangements, infectious complications, and urolithiasis. The aim of this series was to characterize upper and lower urinary tract (LUT) calculi in this population. METHODS: A retrospective chart review was performed on all patients with a history of urinary diversion or augmentation cystoplasty who subsequently underwent treatment for urolithiasis between January 1998 and May 2015...
March 2017: Journal of Endourology
https://www.readbyqxmd.com/read/27905491/changes-in-urinary-metabolomic-profile-during-relapsing-renal-vasculitis
#6
Bahjat Al-Ani, Martin Fitzpatrick, Hamad Al-Nuaimi, Alice M Coughlan, Fionnuala B Hickey, Charles D Pusey, Caroline Savage, Christopher M Benton, Eóin C O'Brien, Declan O'Toole, Ken H Mok, Stephen P Young, Mark A Little
Current biomarkers of renal disease in systemic vasculitis lack predictive value and are insensitive to early damage. To identify novel biomarkers of renal vasculitis flare, we analysed the longitudinal urinary metabolomic profile of a rat model of anti-neutrophil cytoplasmic antibody (ANCA) vasculitis. Wistar-Kyoto (WKY) rats were immunised with human myeloperoxidase (MPO). Urine was obtained at regular intervals for 181 days, after which relapse was induced by re-challenge with MPO. Urinary metabolites were assessed in an unbiased fashion using nuclear magnetic resonance (NMR) spectroscopy, and analysed using partial least squares discriminant analysis (PLS-DA) and partial least squares regression (PLS-R)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27872836/urolithiasis-in-inflammatory-bowel-disease-and-bariatric-surgery
#7
Agapios Gkentzis, Michael Kimuli, Jon Cartledge, Olivier Traxer, Chandra Shekhar Biyani
AIM: To analyse current literature focusing on pathogenesis and therapeutic aspects of urolithiasis with inflammatory bowel disease (IBD) and following bariatric surgery. METHODS: A systematic literature search was performed using PubMed, supplemented with additional references. Studies assessing the association of IBD or bariatric surgery with renal stones in both paediatric and adulthood were included. RESULTS: Certain types of stones are seen more frequently with IBD...
November 6, 2016: World Journal of Nephrology
https://www.readbyqxmd.com/read/27865972/paediatric-urolithiasis-in-emerging-economies
#8
REVIEW
S Adibul Hasan Rizvi, Sajid Sultan, Mirza Naqi Zafar, Bashir Ahmed, Sadaf Aba Umer, S A Anwar Naqvi
BACKGROUND: Paediatric urolithiasis remains endemic in low resource countries. This review highlights the epidemiology, causation and management of urolithiasis in an Asian country in the context of emerging economies. METHODS: A literature review of recent articles with key words paediatric urolithiasis, developing countries, endemic stone disease, stone composition, metabolic risk factors, management of paediatric urolithiasis was undertaken and 51 relevant articles were selected with the main focus on experience of this center in managing stone disease in the last two decades...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27847289/nephrolithiasis-after-bariatric-surgery-a-review-of-pathophysiologic-mechanisms-and-procedural-risk
#9
REVIEW
Umer Hasan Bhatti, Andrew J Duffy, Kurt Eric Roberts, Amir Hafeez Shariff
Obesity alone is a known risk factor for nephrolithiasis, and bariatric surgery has been linked to a higher incidence of post-operative new-onset nephrolithiasis. The mean interval from bariatric surgery to diagnosis of nephrolithiasis, ranges from 1.5 to 3.6 years. The stone risk is greatest for purely malabsorptive procedures, intermediate for Roux-en-Y gastric bypass and lowest for purely restrictive procedures (laparoscopic adjustable gastric banding, laparoscopic sleeve gastrectomy) where it approaches or is reduced below that of non-operative obese controls...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27744630/metabolic-risk-factors-in-pediatric-stone-formers-a-report-from-an-emerging-economy
#10
Kiran Imran, Mirza Naqi Zafar, Uzma Ozair, Sadia Khan, Syed Adibul Hasan Rizvi
The goal of this study was to investigate metabolic risk factors in pediatric stone formers in an emerging economy. A prospective, data collection enrolled 250 children age <1-15 years at our center. Risk factors were evaluated by gender and in age groups <1-5, 6-10 and 11-15 years. Patients were evaluated for demographics, blood and 24 h urine for calcium, magnesium, phosphate, uric acid, electrolytes and additional protein, citrate, ammonia and oxalate in urine. All reported values were two sided and statistical significance was considered at p value ≤0...
October 15, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27639591/evidence-for-epistatic-interaction-between-vdr-and-slc13a2-genes-in-the-pathogenesis-of-hypocitraturia-in-recurrent-calcium-oxalate-stone-formers
#11
Domenico Rendina, Gianpaolo De Filippo, Fernando Gianfrancesco, Riccardo Muscariello, Michele Schiano di Cola, Pasquale Strazzullo, Teresa Esposito
BACKGROUND: Genetic factors play a key role in the pathogenesis of hypocitraturia, a common risk factor for nephrolithiasis. The Na(+)-dicarboxylate cotransporter NaDC1, encoded by the sodium-dicarboxylate cotransporter (SLC13A2) gene, is a major determinant of urinary citrate excretion and its biological functions are regulated also by the vitamin D/Vitamin D receptor (VDR) biological system. The aim of this case-control study was to evaluate the possible epistatic interaction between VDR (rs731236)and SLC13A2 (rs11567842) allelic variants in the pathogenesis of hypocitraturia...
September 17, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27622279/the-challenge-of-cystine-and-struvite-stone-formers-clinical-metabolic-and-surgical-assessment
#12
Kleiton G R Yamaçake, Giovanni S Marchini, Sabrina Reis, Alexandre Danilovic, Fábio C Vicentini, Fábio C M Torricelli, Miguel Srougi, Eduardo Mazzucchi
PURPOSE: To compare the clinical, metabolic, and calculi characteristics of cystine and struvite stone patients after percutaneous nephrolithotripsy (PCNL). MATERIAL AND METHODS: Between January/2006-July/2013, 11 cystine stone patients were treated in our clinic. Of those, 3 were excluded due to incomplete follow-up. Eight cystine stone patients (2 with bilateral disease; 10 renal units-RU) were considered for further analysis. A cohort of 8 struvite stone formers (10RU) was matched having the same age, gender, body mass index (BMI) and Guys stone score...
September 1, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27598490/-lithogenic-risk-in-patients-from-paraguay-with-urolithiasis
#13
Patricia Funes, Gloria Echagüe, Irene Ruiz, Lourdes Rivas, Jorge Zenteno, Rosa Guillén
UNLABELLED: The lithogenic risk profile is a graphical representation of metabolic factors and urinary saturation involved in the stone formation with their respective critical values. AIM: To determine the lithogenic risk profile in patients with urolithiasis. MATERIAL AND METHODS: Personal data such as anthropometric, history of diseases and family history of urolithiasis were recorded. Different compounds acting as promoters or inhibitors of crystallization were measured in serum and urine samples, and the data obtained were used to calculate urinary saturation using Equil software...
June 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27510800/metabolic-disturbances-in-chinese-children-with-urolithiasis-a-single-center-report
#14
Dong Yang, Hans-Göran Tiselius, Chuangxin Lan, Dong Chen, Kang Chen, Lili Ou, Yang Liu, Shaohong Xu, Guohua Zeng, Ming Lei, Wenqi Wu
Urinary stones and urine composition are the first steps in the process of recurrence prevention, but data concerning the association between the two compositions are scarce in Chinese children with urolithiasis. We retrospectively analyzed the records of children (age range 0-18 years) with urolithiasis in our center between March 2004 and December 2013. Stone analysis was carried out in 382 children and 24-hour urine analysis in 80 children. Analysis of both stone and 24-hour urine composition was completed in 56 children...
August 10, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27430498/-pathogenic-factors-in-calcium-oxalate-stones-epidemiological-investigation
#15
H Kaaroud El Jery, A Harzallah, S Chouchi, E Talbi, H Baccouch, J Abdelmoula, A Bouzouita, M Chebil, F Ben Hamida, T Ben Abdallah
INTRODUCTION: Calcium oxalate stones are the most common urolithiasis. Changes in dietary habits, socio-economic and health status of populations explain its progression. The aim of our study was to determine metabolic factors leading to lithiasis and clarify its causes. PATIENTS AND METHODS: This is a retrospective study of 100 patients with calcium oxalate stones identified by morpho-constitutional study, collected in our department over a period of 5 years (2008-2013)...
June 2016: Progrès en Urologie
https://www.readbyqxmd.com/read/27286123/are-patients-with-lichen-planus-really-prone-to-urolithiasis-lichen-planus-and-urolithiasis
#16
Ural Oguz, Zennure Takci, Isil Deniz Oguz, Berkan Resorlu, Ilknur Balta, Ali Unsal
PURPOSE: to investigate whether patients with lichen planus (LP) are really prone to urolithiasis or not. PATIENTS AND METHODS: We performed a prospective analysis of 40 patients diagnosed with lichen planus (LP) (group I), and 40 volunteers did not have LP before (group II). Participants were all checked for urolithiasis by radiological investigations. Blood samples were analyzed for biochemistry parameters including calcium and uric acid. 24-h urine samples were analyzed to investigate oxalate, citrate calcium, uric acid, magnesium, sodium and creatinine...
May 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27247958/mutations-in-atp6v1b1-and-atp6v0a4-genes-cause-recessive-distal-renal-tubular-acidosis-in-mexican-families
#17
Laura I Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo, Rosa Vargas-Poussou
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia. METHODS: Nine unrelated families were studied: seven children, a teenager, and an adult with dRTA...
May 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27098938/metabolic-features-and-renal-outcomes-of-urolithiasis-in-children
#18
Sang Taek Lee, Heeyeon Cho
AIM: The incidence of pediatric urolithiasis has increased over the last century because of dietary changes, metabolic abnormalities, climate change, and genitourinary abnormalities. Data on pediatric urolithiasis in non-endemic countries are limited. The aim of this study was to evaluate the clinical findings and metabolic etiology of urolithiasis in Korean children. MATERIAL AND METHODS: The medical records of 73 Korean children who were newly diagnosed with urolithiasis from January 2010 to December 2013 were retrospectively analyzed...
July 2016: Renal Failure
https://www.readbyqxmd.com/read/27033084/endoscopic-description-of-renal-papillary-abnormalities-in-stone-disease-by-flexible-ureteroscopy-a-proposed-classification-of-severity-and-type
#19
Christophe Almeras, Michel Daudon, Guillaume Ploussard, Jean Romain Gautier, Olivier Traxer, Paul Meria
INTRODUCTION: The goal of this original work was to describe papillary abnormalities using flexible ureteroscopy into a new classification and to assess their relation with stone composition. PATIENTS AND METHODS: We performed a prospective monocentric single-operator study aiming to describe various aspects of renal papillae. Data have been prospectively collected during consecutive 164 sequential flexible ureterorenoscopies required for the treatment of renal stones from May 2011 to March 2015...
November 2016: World Journal of Urology
https://www.readbyqxmd.com/read/26959969/use-of-urinary-concentrations-in-mg-dl-in-relation-to-absolute-values-in-24-hour-samples-for-the-evaluation-of-lithogenic-factors-in-stone-forming-patients
#20
M A Arrabal-Polo, M C Cano-García, G Hidalgo-Agullo, L Roletto-Salmo
OBJECTIVE: The aim of this study is to analyze urine concentrations (mg/dl) of different lithogenic factors in a sample of 24 h as a predictor of these changes rather than absolute values depend on the volume of diuresis. METHODS: A total of 131 patients from the North Almeria Health Management Area (Spain) with urinary calstone disease in whom a metabolic study was indicated were included from June 2014 to May 2015. The concentrations of calcium, oxalate, uric acid, citrate and magnesium were measured in the urine, and the calcium/citrate ratio was calculated...
March 2016: Archivos Españoles de Urología
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