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Primary hyperoxaluria

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https://www.readbyqxmd.com/read/28089681/steatorrhea-and-hyperoxaluria-in-severely-obese-patients-before-and-after-roux-en-y-gastric-bypass
#1
Amber M Moreland, Carol A Santa Ana, John R Asplin, Joseph A Kuhn, Ross P Holmes, Jason A Cole, Elizabeth A Odstrcil, Thomas G Van Dinter, Juan G Martinez, John S Fordtran
BACKGROUND: Hyperoxaluria after Roux-en-Y gastric bypass (RYGB) is generally attributed to fat malabsorption. If hyperoxaluria is indeed caused by fat malabsorption, magnitudes of hyperoxaluria and steatorrhea should correlate. Severely obese patients, prior to bypass, ingest excess dietary fat, which can produce hyperphagic steatorrhea. The primary objective of the study was to determine whether urine oxalate excretion correlates with elements of fat balance in severely obese patients before and after RYGB...
January 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/27993722/use-of-polymer-conjugates-for-the-intraperoxisomal-delivery-of-engineered-human-alanine-glyoxylate-aminotransferase-as-a-protein-therapy-for-primary-hyperoxaluria-type-i
#2
Alessandro Roncador, Elisa Oppici, Marina Talelli, Amaya Niño Pariente, Marta Donini, Stefano Dusi, Carla Borri Voltattorni, María J Vicent, Barbara Cellini
Alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme whose deficit causes the rare disorder Primary Hyperoxaluria Type I (PH1). We now describe the conjugation of poly(ethylene glycol)-co-poly(L-glutamic acid) (PEG-PGA) block-co-polymer to AGT via the formation of disulfide bonds between the polymer and solvent-exposed cysteine residues of the enzyme. PEG-PGA conjugation did not affect AGT structural/functional properties and allowed the enzyme to be internalized in a cellular model of PH1 and to restore glyoxylate-detoxification...
December 18, 2016: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/27960020/-the-hyperoxalurias
#3
Martino Marangella, Michele Petrarulo, Francesca Bermond, Cristina Marcuccio, Corrado Vitale
Oxalate (Ox) is an end-product of metabolism, important for poor solubility of its calcium salt in biological fluids. Ox can therefore be found in about 70% of urinary calculi. Hyperoxaluria (HOx) defined as Ox exceeding 0.5 mmol)/day, may cause nephrolithiasis/nephrocalcinosis and may be classified as dietary (DH), enteric (EH) or primary (PH). Fractional intestinal absorption of Ox is less than 10%, but increases to over 20% at calcium intakes below 200 mg/day. DH is often related to low-calcium diets. EH is caused by non-absorbed fatty acids which bind to calcium and lower its concentration in the intestinal lumen...
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27935012/mutational-analysis-of-agxt-in-tunisian-population-with-primary-hyperoxaluria-type-1
#4
Saoussen M'dimegh, Asma Omezzine, Ibtihel M'barek, Amira Moussa, Sameh Mabrouk, Hayet Kaarout, Geneviéve Souche, Jalel Chemli, Sabra Aloui, Cécile Aquaviva-Bourdain, Abdellatif Achour, Saoussen Abroug, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically heterogeneous disorder. The aim of our study was to analyze and characterize the mutational spectrum of PH1 in Tunisian patients. MATERIALS AND METHODS: Molecular studies of 146 Tunisian patients suspected with PH were performed by PCR/Restriction fragment length polymorphism (RFLP) to detect seven mutations described as the most common...
December 9, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27924398/a-randomised-phase-i-ii-trial-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#5
Bernd Hoppe, Patrick Niaudet, Rémi Salomon, Jérôme Harambat, Sally-Anne Hulton, William Van't Hoff, Shabbir H Moochhala, Georges Deschênes, Elisabeth Lindner, Anna Sjögren, Pierre Cochat
BACKGROUND: Primary hyperoxaluria (PH) is a rare, genetic disorder which involves the overproduction of endogenous oxalate, leading to hyperoxaluria, recurrent urolithiasis and/or progressive nephrocalcinosis and eventually resulting in kidney failure and systemic oxalosis. The aim of this trial was to investigate whether treatment involving an oxalate-metabolising bacterium (Oxalobacter formigenes) could reduce urinary oxalate excretion in PH patients. METHODS: The efficacy and safety of O...
December 6, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27915025/molecular-analysis-of-the-agxt-gene-in-patients-suspected-with-hyperoxaluria-type-1-and-three-novel-mutations-from-turkey
#6
Emel Isiyel, Sevcan A Bakkaloglu Ezgu, Salim Caliskan, Sema Akman, Ipek Akil, Yilmaz Tabel, Nurver Akinci, Elif Bahat Ozdogan, Ahmet Ozel, Fehime Kara Eroglu, Fatih S Ezgu
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1...
December 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27847291/rna-interference-in-the-treatment-of-renal-stone-disease-current-status-and-future-potentials
#7
REVIEW
Kyle D Wood, Ross P Holmes, John Knight
Recent advances in RNA interference (RNAi) delivery and chemistry have resulted in the development of more than 20 RNAi-based therapeutics, several of which are now in Phase III trials. The most advanced clinical trials have utilized modifications such as lipid nanoparticles and conjugation to N-acetyl galactosamine to treat liver specific diseases. Recent reports have suggested that reducing endogenous oxalate synthesis by RNAi may be a safe and effective therapy for patients with the rare disease, Primary Hyperoxaluria (PH)...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27844104/primary-hyperoxaluria-spectrum-of-clinical-and-imaging-findings
#8
Sara B Strauss, Temima Waltuch, William Bivin, Frederick Kaskel, Terry L Levin
Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis)...
January 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/27815184/the-primary-hyperoxalurias-a-practical-approach-to-diagnosis-and-treatment
#9
REVIEW
Sally-Anne Hulton
Although the primary hyperoxalurias (PH) are rare disorders, they are of considerable clinical importance in relation to calcium oxalate urolithiasis and as a cause of renal failure worldwide. Three distinct disorders have been described at the molecular level. The investigation of any child or adult presenting with urinary tract stones or nephrocalcinosis, must exclude PH as an underlying cause. This paper provides a practical approach to the investigation and diagnosis of PH, indicating the importance of distinguishing between the PH types for the purposes of targeting appropriate therapy...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27795638/bilateral-nephrocalcinosis-in-primary-hyperoxaluria-type-1
#10
C A Mansoor, A Jemshad, D S Milliner, N K N Bhushan
No abstract text is available yet for this article.
September 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27742850/late-diagnosis-of-primary-hyperoxaluria-type-iii
#11
Emmanuel Richard, Jean-Marc Blouin, Jérome Harambat, Brigitte Llanas, Stéphane Bouchet, Cécile 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 aetiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal concentrations 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...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/27738124/oxalobacter-formigenes-derived-bioactive-factors-stimulate-oxalate-transport-by-intestinal-epithelial-cells
#12
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
https://www.readbyqxmd.com/read/27720751/effects-of-interface-mutations-on-the-dimerization-of-alanine-glyoxylate-aminotransferase-and-implications-in-the-mistargeting-of-the-pathogenic-variants-f152i-and-i244t
#13
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...
December 2016: Biochimie
https://www.readbyqxmd.com/read/27704510/nephrocalcinosis-in-tunisian-children
#14
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
https://www.readbyqxmd.com/read/27670739/high-throughput-cell-based-assay-for-identification-of-glycolate-oxidase-inhibitors-as-a-potential-treatment-for-primary-hyperoxaluria-type-1
#15
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
https://www.readbyqxmd.com/read/27659337/a-novel-mutation-in-the-agxt-gene-causing-primary-hyperoxaluria-type-i-genotype-phenotype-correlation
#16
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
https://www.readbyqxmd.com/read/27644547/two-novel-agxt-mutations-identified-in-primary-hyperoxaluria-type-1-and-distinct-morphological-and-structural-difference-in-kidney-stones
#17
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
https://www.readbyqxmd.com/read/27612997/hyperoxaluria-requires-tnf-receptors-to-initiate-crystal-adhesion-and-kidney-stone-disease
#18
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
https://www.readbyqxmd.com/read/27568336/identification-of-a-novel-agxt-gene-mutation-in-primary-hyperoxaluria-after-kidney-transplantation-failure
#19
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...
November 2016: Transplant Immunology
https://www.readbyqxmd.com/read/27561601/hoga1-gene-mutations-of-primary-hyperoxaluria-type-3-in-tunisian-patients
#20
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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