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Primary hyperoxaluria

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
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
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
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
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
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
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
Craig B Langman, Danica Grujic, Rita M Pease, Linda Easter, Jennifer Nezzer, Alexey Margolin, Lee Brettman
BACKGROUND: Hyperoxaluria may result from increased endogenous production or overabsorption of dietary oxalate in the gastrointestinal tract leading to nephrolithiasis and, in some, to oxalate nephropathy and chronic kidney disease. ALLN-177 is an oral formulation of a recombinant, oxalate specific, microbial enzyme oxalate decarboxylase intended to treat secondary hyperoxaluria by degrading dietary oxalate in the gastrointestinal tract, thereby reducing its absorption and subsequent excretion in the urine...
2016: American Journal of Nephrology
A K Dutta, B K Paulose, S Danda, S Alexander, V Tamilarasi, S Omprakash
Primary hyperoxaluria type 1 is an autosomal recessive inborn error of metabolism due to liver-specific peroxisomal enzyme alanine-glyoxylate transaminase deficiency. Here, we describe two unrelated patients who were diagnosed to have primary hyperoxaluria. Homozygous c.445_452delGTGCTGCT (p.L151Nfs*14) (Transcript ID: ENST00000307503; human genome assembly GRCh38.p2) (HGMD ID CD073567) mutation was detected in both the patients and the parents were found to be heterozygous carriers. Our patients developed end-stage renal disease at 23 years and 35 years of age...
July 2016: Indian Journal of Nephrology
Akila Rajakumar, Shiwalika Gupta, Selvakumar Malleeswaran, Joy Varghese, Ilankumaran Kaliamoorthy, Mohamed Rela
BACKGROUND AND AIMS: The perioperative management of patients presenting for simultaneous liver and kidney transplantation (SLKT) is a complex process. We analysed SLKTs performed in our institution to identify preoperative, intraoperative and post-operative challenges encountered in the management. METHODS: We retrospectively studied the case records of 12 patients who underwent SLKT between 2009 and 2014 and analysed details of pre-operative evaluation and optimisation, intraoperative anaesthetic management and the implications of use of perioperative continuous renal replacement therapy (CRRT) and the post-operative course of these patients...
July 2016: Indian Journal of Anaesthesia
Tracy P Marien, Nicole L Miller
INTRODUCTION: The mechanism of kidney stone formation is not well understood. To better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones. EVIDENCE ACQUISITION: A review of the literature was performed identifying thirteen studies that endoscopically mapped and biopsied renal papillae of different stone formers...
July 21, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Abigail Liebow, Xingsheng Li, Timothy Racie, Julia Hettinger, Brian R Bettencourt, Nader Najafian, Patrick Haslett, Kevin Fitzgerald, Ross P Holmes, David Erbe, William Querbes, John Knight
Primary hyperoxaluria type 1 (PH1), an inherited rare disease of glyoxylate metabolism, arises from mutations in the enzyme alanine-glyoxylate aminotransferase. The resulting deficiency in this enzyme leads to abnormally high oxalate production resulting in calcium oxalate crystal formation and deposition in the kidney and many other tissues, with systemic oxalosis and ESRD being a common outcome. Although a small subset of patients manages the disease with vitamin B6 treatments, the only effective treatment for most is a combined liver-kidney transplant, which requires life-long immune suppression and carries significant mortality risk...
July 18, 2016: Journal of the American Society of Nephrology: JASN
GholamHossein Naderi, Firouzeh Tabassomi, AmirHossein Latif, MohammadReza Ganji
Primary hyperoxaluria Type-1 (PH-1) is caused by a deficiency of alanine-glyoxylate aminotransferase manifesting as urolithiasis, nephrocalcinosis, and end-stage renal disease (ESRD). Among treatment options, best outcomes have been achieved by sequential liver-kidney transplantation (Seq-LKT). Herein, we report a patient with PH-1 and ESRD who underwent Seq-LKT in Iran. Criteria for diagnosis included a history of recurring calcium oxalate renal stones and elevated urine oxalate level combined with liver biopsy and absent enzymatic activity at the age of 13 years...
July 2016: Saudi Journal of Kidney Diseases and Transplantation
Hassan Bouzidi, Ali Majdoub, Michel Daudon, Mohamed Fadhel Najjar
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxalate and oxalate with recessive autosomal transmission. As a result, an increased endogenous production of oxalate leads to exessive urinary oxalate excretion. PH type 1, the most common form, is due to a deficiency of the peroxisomal enzyme alanine: Glyoxylate aminotransferase (AGT) in the liver. PH type 2 is due to the deficiency of the glyoxylate reductase/hydroxypyruvate réductase, present in the cytosol of hepatocytes and leucocytes...
June 29, 2016: Néphrologie & Thérapeutique
Natalia Zapata-Linares, Saray Rodriguez, Eduardo Salido, Gloria Abizanda, Elena Iglesias, Felipe Prosper, Gloria Gonzalez-Aseguinolaza, Juan R Rodriguez-Madoz
In this work we describe for the first time the generation and characterization of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMCs) and dermal fibroblasts of a Primary Hyperoxaluria Type I (PH1)-diagnosed patient with p.I244T mutation, which is highly prevalent in Canary Islands due to founder effect. Cell reprogramming was performed using non-integrative Sendai viruses containing the Yamanaka factors and the generated PH1-hiPSC lines (PH1-PBMCs-hiPSC4F1 and PH1-Fib-hiPSC4F1) showed normal karyotypes, silencing of the exogenous reprogramming factors, induction of the typical pluripotency-associated markers and in vivo differentiation ability to the three germ layers...
January 2016: Stem Cell Research
Dean G Assimos
No abstract text is available yet for this article.
July 2016: Journal of Urology
Dean G Assimos
No abstract text is available yet for this article.
July 2016: Journal of Urology
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