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Zhuo Liu, Hongyang Jiang, Jun Yang, Tao Wang, Yufeng Ding, Jihong Liu, Shaogang Wang, Zhangqun Ye
Calcium oxalate stones account for >80% of urinary stones, however the mechanisms underlying their formation remains to be elucidated. Hyperoxaluria serves an important role in the pathophysiological process of stone formation. In the present study, differences in the miRNA expression profiles between experimental hyperoxaluric rats and normal rats were analyzed, in order to identify target genes and signaling pathways involved in the pathogenesis of hyperoxaluria. Ethylene glycol and ammonium chloride was fed to male hyperoxaluric rats (EXP) and normal age‑matched male rats (CON)...
October 12, 2016: Molecular Medicine Reports
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
Emmanuel Richard, Jean-Marc Blouin, Jerome Harambat, Brigitte Llanas, Stephane Bouchet, Cecile Acquaviva, Renaud De la Faille
We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years whose etiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal levels of urinary glyceric and glycolic acid as well as stones of idiopathic calcium-oxalate appearance. Furthermore, the dietary survey showed excessive consumption of food supplements containing massive amounts of oxalate precursors...
October 13, 2016: Annals of Clinical Biochemistry
Donna Arvans, Yong-Chul Jung, Dionysios Antonopoulos, Jason Koval, Ignacio Granja, Mohamed Bashir, Eltayeb Karrar, Jayanta Roy-Chowdhury, Mark Musch, John Asplin, Eugene Chang, Hatim Hassan
Hyperoxaluria is a major risk factor for kidney stones and has no specific therapy, although Oxalobacter formigenes colonization is associated with reduced stone risk. O. formigenes interacts with colonic epithelium and induces colonic oxalate secretion, thereby reducing urinary oxalate excretion, via an unknown secretagogue. The difficulties in sustaining O. formigenes colonization underscore the need to identify the derived factors inducing colonic oxalate secretion. We therefore evaluated the effects of O...
October 13, 2016: Journal of the American Society of Nephrology: JASN
Mirco Dindo, Riccardo Montioli, Mirko Busato, Alejandro Giorgetti, Barbara Cellini, Carla Borri Voltattorni
In this work the dimerization process of the minor allelic form of human alanine glyoxylate aminotransferase, a pyridoxal 5'-phosphate enzyme, was investigated. Bioinformatic analyses followed by site-directed mutagenesis, size exclusion chromatography and catalytic activity experiments allowed us to identify Arg118, Phe238 and Phe240 as interfacial residues not essential for transaminase activity but important for dimer-monomer dissociation. The apo and the holo forms of the triple mutant R118A-Mi/F238S-Mi/F240S-Mi display a dimer-monomer equilibrium dissociation constant value at least ̴ 260- and 31-fold larger, respectively, than the corresponding ones of AGT-Mi...
October 5, 2016: Biochimie
Deepika Aggarwal, Diksha Gautam, Minu Sharma, S K Singla
Bergenin, isolated from Bergenia ligulata is a potent antioxidant and antilithiatic agent. Present work was designed to establish the biochemical role of bergenin on mitochondrial dysfunction in the ethylene glycol induced hyperoxaluric rat model. Bergenin was administrated at a dose of 10mg/kg body wt i.p. from 14th day of establishing the 28 days hyperoxaluria rat model. α-Tocopherol was given as positive control at a dose of 100mg/kg body wt i.p. Mitochondrial dysfunction was studied by evaluating the activities of respiratory chain complexes, mitochondrial membrane potential and reactive oxygen species...
October 5, 2016: European Journal of Pharmacology
Elisa Cicerello, Mario Mangano, Gian Davide Cova, Franco Merlo, Luigi Maccatrozzo
Fifty-four patients with infected renal lithiasis underwent complete metabolic evaluation searching for underlying factors contributing to stone formation including urine analysis and culture. Metabolic abnormalities were significantly more present in patients with mixed infected stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria in 28% (p < 0.05). Urinary excretion of citrate was low in both groups without statistically significant difference (238+/-117 mg/24 h vs 214+/-104 mg/24/h, t = 0...
October 5, 2016: Archivio Italiano di Urologia, Andrologia
Mangesh V Suryavanshi, Shrikant S Bhute, Swapnil D Jadhav, Manish S Bhatia, Rahul P Gune, Yogesh S Shouche
Hyperoxaluria due to endogenously synthesized and exogenously ingested oxalates is a leading cause of recurrent oxalate stone formations. Even though, humans largely rely on gut microbiota for oxalate homeostasis, hyperoxaluria associated gut microbiota features remain largely unknown. Based on 16S rRNA gene amplicons, targeted metagenomic sequencing of formyl-CoA transferase (frc) gene and qPCR assay, we demonstrate a selective enrichment of Oxalate Metabolizing Bacterial Species (OMBS) in hyperoxaluria condition...
October 6, 2016: Scientific Reports
Manel Jellouli, Wiem Karoui, Kamel Abidi, Yousra Hammi, Ouns Naija, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Background Nephrocalcinosis is rare in children. Its etiologies are multiple. The aim of this study was to analyze the etiology of nephrocalcinosis in Tunisian children. Methods This retrospective study was conducted in the department of pediatrics in Charles Nicolle Hospital during a period of 10 years (2001-2010). Results There were 40 children. The mean age was 3.5 years. The most common signs and symptoms at presentation were growth retardation (42.5%) and hematuria (53.8%). At presentation, renal failure was detected in 70% of patients...
April 2016: La Tunisie Médicale
R Brent Thomson, Claire L Thomson, Peter S Aronson
The brush border Cl-oxalate exchanger SLC26A6 plays an essential role in mediating intestinal secretion of oxalate, and is crucial for the maintenance of oxalate homeostasis and the prevention of hyperoxaluria and calcium oxalate nephrolithiasis. Previous in vitro studies have suggested that SLC26A6 is heavily N-glycosylated. N-linked glycosylation is known to critically affect folding, trafficking and function in a wide variety of integral membrane proteins and could therefore potentially have a critical impact on SLC26A6 function and subsequent oxalate homeostasis...
September 28, 2016: American Journal of Physiology. Cell Physiology
Mengqiao Wang, Miao Xu, Yan Long, Sonia Fargue, Noel Southall, Xin Hu, John C McKew, Christopher J Danpure, Wei Zheng
Glycolate oxidase (GO) and alanine:glyoxylate aminotransferase (AGT) are both involved in the peroxisomal glyoxylate pathway. Deficiency in AGT function causes the accumulation of intracellular oxalate and the primary hyperoxaluria type 1 (PH1). AGT enhancers or GO inhibitors may restore the abnormal peroxisomal glyoxylate pathway in PH1 patients. With stably transformed cells which mimic the glyoxylate metabolic pathway, we developed an indirect glycolate cytotoxicity assay in a 1,536-well plate format for high throughput screening...
September 27, 2016: Scientific Reports
Ellen F Carney
No abstract text is available yet for this article.
November 2016: Nature Reviews. Nephrology
Saoussen M'Dimegh, Cécile Aquaviva-Bourdain, Asma Omezzine, Ibtihel M'Barek, Geneviéve Souche, Dorsaf Zellama, Kamel Abidi, Abdelattif Achour, Tahar Gargah, Saoussen Abroug, Ali Bouslama
Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine : glyoxylate aminotransferase (AGT) which is deficient or mistargeted to mitochondria. PH1 shows considerable phenotypic and genotypic heterogeneity. The incidence and severity of PH1 varies in different geographic regions. DNA samples of the affected members from two unrelated Tunisian families were tested by amplifying and sequencing each of the AGXT exons and intron-exon junctions...
September 2016: Journal of Genetics
Theodora Stasinou, Andreas Bourdoumis, Junaid Masood
OBJECTIVES: To investigate a possible causal relationship for stone formation in pelviureteric junction obstruction and to outline management options. MATERIALS AND METHODS: A literature search and evidence synthesis was conducted via electronic databases in the English language using the key words pelviureteric junction obstruction; urolithiasis; hyperoxaluria; laparoscopic pyeloplasty; flexible nephroscopy; percutaneous nephrolithotomy, alone or in combination...
September 20, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Cui Wang, Jingru Lu, Yanhua Lang, Ting Liu, Xiaoling Wang, Xiangzhong Zhao, Leping Shao
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by excessive oxalate accumulation in plasma and urine, resulting in various phenotypes because of allelic and clinical heterogeneity. This study aimed to detect disease-associated genetic mutations in three PH1 patients in a Chinese family. All AGXT exons and 3 common polymorphisms which might synergistically interact with mutations, including P11L, I340 M and IVSI+74 bp were analyzed by direct sequencing in all family members. It demonstrated that in each of three patients, a previously reported nonsense mutation p...
2016: Scientific Reports
Gina M Cambareri, Dana W Giel, Aaron P Bayne, Sean Corbett, Elleson Schurtz, Larisa Kovacevic, Troy Sukhu, Michael Yap, George Chiang
OBJECTIVE: To determine if 24-hour urinary parameters in children with nephrolithiasis across four institutions were influenced by body mass index (BMI). MATERIALS AND METHODS: The 24-hour urinary parameters obtained from children with nephrolithiasis between 2000-2013 were stratified by BMI percentile ≥85th and <85th (overweight and obese patients versus healthy weight, respectively). A total of 206 children were included in the study. Exclusion criteria included patients with a history of spina bifida, neurogenic bladder, cerebral palsy and patients on medical treatment before the first 24-hour urine collection...
September 15, 2016: Urology
Shrikant R Mulay, Jonathan N Eberhard, Jyaysi Desai, Julian A Marschner, Santhosh V R Kumar, Marc Weidenbusch, Melissa Grigorescu, Maciej Lech, Nuru Eltrich, Lisa Müller, Wolfgang Hans, Martin Hrabě de Angelis, Volker Vielhauer, Bernd Hoppe, John Asplin, Nicolai Burzlaff, Martin Herrmann, Andrew Evan, Hans-Joachim Anders
Intrarenal crystals trigger inflammation and renal cell necroptosis, processes that involve TNF receptor (TNFR) signaling. Here, we tested the hypothesis that TNFRs also have a direct role in tubular crystal deposition and progression of hyperoxaluria-related CKD. Immunohistochemical analysis revealed upregulated tubular expression of TNFR1 and TNFR2 in human and murine kidneys with calcium oxalate (CaOx) nephrocalcinosis-related CKD compared with controls. Western blot and mRNA expression analyses in mice yielded consistent data...
September 9, 2016: Journal of the American Society of Nephrology: JASN
Jae Min Lee, Bora Keum, In Kyung Yoo, Seung Han Kim, Hyuk Soon Choi, Eun Sun Kim, Yeon Seok Seo, Yoon Tae Jeen, Hoon Jai Chun, Hong Sik Lee, Soon Ho Um, Chang Duck Kim, Myung Gyu Kim, Sang Kyung Jo
The safety of polyethylene glycol plus ascorbic acid has not been fully investigated in patients with renal insufficiency. High-dose ascorbic acid could induce hyperoxaluria, thereby causing tubule-interstitial nephritis and renal failure. This study aims to evaluate the safety and efficacy of polyethylene glycol plus ascorbic acid in patients with chronic kidney disease.We retrospectively reviewed prospectively collected data on colonoscopy in patients with impaired renal function. Patients were divided into 2 groups: 2 L polyethylene glycol plus ascorbic acid (n = 61) and 4 L polyethylene glycol (n = 80)...
September 2016: Medicine (Baltimore)
Saoussen M'dimegh, Asma Omezzine, Mériam Ben Hamida-Rebai, Cécile Aquaviva-Bourdain, Ibtihel M'barek, Wissal Sahtout, Dorsaf Zellama, Geneviéve Souche, Abdellatif Achour, Saoussen Abroug, Ali Bouslama
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. The aim of this study was to determine the molecular etiology of kidney transplant loss in a young Tunisian individual. We present a young man with end-stage renal disease who received a kidney allograft and experienced early graft failure...
August 25, 2016: Transplant Immunology
Saoussen M'dimegh, Cécile Aquaviva-Bourdain, Asma Omezzine, Geneviéve Souche, Ibtihel M'barek, Kamel Abidi, Tahar Gargah, Saoussen Abroug, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. The aim of this study was to report three PH3 cases carrying mutations in HOGA1. MATERIALS AND METHODS: Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after sequencing of AGXT and GRHPR genes, which was negative...
August 26, 2016: Journal of Clinical Laboratory Analysis
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