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hyperoxaluria

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https://www.readbyqxmd.com/read/28937064/nephrocalcinosis-among-children-at-king-hussein-medical-center-causes-and-outcome
#1
Jwaher T Al-Bderat, Reham I Mardinie, Ghazi M Salaita, Amer T Al-Bderat, Mahdi K Farrah
Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up. Thirty-five (55.5%) cases were males and 28 (44.5%) were females. The median (range) age at presentation was four (2-192) months...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28911204/enhanced-vulnerability-of-human-proteins-towards-disease-associated-inactivation-through-divergent-evolution
#2
Encarnación Medina-Carmona, Julian E Fuchs, Jose A Gavira, Noel Mesa-Torres, Jose L Neira, Eduardo Salido, Rogelio Palomino-Morales, Miguel Burgos, David J Timson, Angel L Pey
Human proteins are vulnerable towards disease-associated single amino acid replacements affecting protein stability and function. Interestingly, a few studies have shown that consensus amino acids from mammals or vertebrates can enhance protein stability when incorporated into human proteins. Here, we investigate yet unexplored relationships between the high vulnerability of human proteins towards disease-associated inactivation and recent evolutionary site-specific divergence of stabilizing amino acids. Using phylogenetic, structural and experimental analyses, we show that divergence from the consensus amino acids at several sites during mammalian evolution has caused local protein destabilization in two human proteins linked to disease: cancer-associated NQO1 and alanine:glyoxylate aminotransferase, mutated in primary hyperoxaluria type I...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28906061/opposite-effect-of-polymorphic-mutations-on-the-electrostatic-aggregation-of-human-alanine-glyoxylate-aminotransferase-implications-for-the-pathogenesis-of-primary-hyperoxaluria-type-i
#3
Mirco Dindo, Carolina Conter, Barbara Cellini
Protein aggregates formation is the basis of several misfolding diseases, including those displaying loss-of-function pathogenesis. Although aggregation is often attributed to the population of intermediates exposing hydrophobic surfaces, the contribution of electrostatic forces has recently gained attention. Here we combined computational and in vitro studies to investigate the aggregation process of human peroxisomal alanine:glyoxylate aminotransferase (AGT), a pyridoxal 5'-phosphate (PLP)-dependent enzyme involved in glyoxylate detoxification...
September 14, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28904440/primary-hyperoxaluria-type-1-with-homozygosity-for-a-double-mutated-agxt-allele-in-a-2-year-old-child
#4
S Krishnamurthy, G B Kartha, V S Venkateswaran, M Prasannakumar, S Mahadevan, M Gowda, A Pelle, D Giachino
Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two missense mutations in the AGXT gene was found: first, a C to G transversion (c. 32C>G) in exon 1 resulting in the amino acid substitution p.Pro11Arg; second, a T to A transversion (c. 167T>A) in exon 2 resulting in p...
September 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28882031/a-multiregional-italian-cohort-of-24-hour-urine-metabolic-evaluation-in-renal-stone-formers
#5
Francesco Esperto, Martino Marangella, Alberto Trinchieri, Michele Petrarulo, Roberto Miano
BACKGROUND: Nephrolithiasis is a common condition with several studies documenting an increased prevalence over the past four decades. EAU and AUA guidelines recommend 24-hour urine metabolic evaluation in high-risk stone formers. Aim of this study is to retrospectively evaluate the first three years of experience with Lithotest® (Biohealth Italia Srl, Turin, Italy) through the analysis of demographic, clinical and biochemical data collected from a large cohort of patients with kidney stones...
September 7, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/28875258/molecular-analysis-of-oxalate-induced-endoplasmic-reticulum-stress-mediated-apoptosis-in-the-pathogenesis-of-kidney-stone-disease
#6
Albert Abhishek, Shaly Benita, Monika Kumari, Divya Ganesan, Eldho Paul, Ponnusamy Sasikumar, Ayyavu Mahesh, Subramani Yuvaraj, Tharmarajan Ramprasath, Govindan Sadasivam Selvam
Oxalate, a non-essential end product of metabolism, causes hyperoxaluria and eventually calcium oxalate (CaOx) stone disease. Kidney cells exposed to oxalate stress results in generation of reactive oxygen species (ROS) and progression of stone formation. Perturbations in endoplasmic reticulum (ER) result in accumulation of misfolded proteins and Ca(2+) ions homeostasis imbalance and serve as a common pathway for various diseases, including kidney disorders. ER stress induces up-regulation of pro-survival protein glucose-regulated protein 78 (GRP78) and pro-apoptotic signaling protein C/EBP homologous protein (CHOP)...
September 5, 2017: Journal of Physiology and Biochemistry
https://www.readbyqxmd.com/read/28859746/oxalosis-in-a-patient-with-livedo-reticularis
#7
Meriam Triki, Meriem Ksentini, Rim Kallel, Emna Bahloul, Faiçal Jarraya, Abderrahmen Masmoudi, Tahya Boudawara
A 27-year-old man with terminal renal failure requiring peritoneal dialysis for the past 2 years was referred to the dermatologist for evaluation of red violaceous macular skin lesions consistent with livedo reticularis. These lesions had appeared suddenly on his legs (Figure 1). He had first experienced recurrent nephrolithiasis at the age of 14. Results from urine analysis and abdominal ultrasound revealed chronic kidney failure. Because the patient had a sister with similar findings, primary hyperoxaluria (PH) was suspected and genetic testing was performed in all members of his family...
2017: Skinmed
https://www.readbyqxmd.com/read/28842757/successful-long-term-outcome-of-pediatric-liver-kidney-transplantation-a-single-center-study
#8
Jesús Quintero Bernabeu, Javier Juamperez, Marina Muñoz, Olalla Rodriguez, Ramon Vilalta, José A Molino, Marino Asensio, Itxarone Bilbao, Gema Ariceta, Carlos Rodrigo, Ramón Charco
INTRODUCTION: Liver-kidney transplantation is a rare procedure in children, with just ten to 30 cases performed annually worldwide. The main indications are autosomal recessive polycystic liver-kidney disease and primary hyperoxaluria. This study aimed to report outcomes of liver-kidney transplantation in a cohort of pediatric patients. METHODS: We retrospectively analyzed all pediatric liver-kidney transplantations performed in our center between September 2000 and August 2015...
August 25, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28840362/effect-of-endoplasmic-reticulum-stress-inhibition-on-hyperoxaluria-induced-oxidative-stress-influence-on-cellular-ros-sources
#9
Rishi Bhardwaj, Chanderdeep Tandon, Devinder K Dhawan, Tanzeer Kaur
PURPOSE: Hyperoxaluria-induced calcium oxalate crystallisation is associated with the generation of reactive oxygen species (ROS) via mitochondria and NADPH oxidase. Endoplasmic reticulum (ER) has emerged as an organelle which could influence mitochondrial functioning and ROS generation. Plugging an upstream pathway of mitochondrial and NADPH oxidase-induced ROS generation may have better prophylaxis. Therefore, we propose to investigate the linkage of hyperoxaluria-induced ROS generation with ER stress by inhibiting the later with 4-Phenylbutyric acid (4-PBA)...
August 24, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/28828168/the-long-term-outcome-of-pediatric-kidney-transplantation-in-iran-results-of-a-25-year-single-center-cohort-study
#10
G Naderi, A Latif, S Karimi, F Tabassomi, S T Esfahani
BACKGROUND: Kidney transplantation is the optimal treatment for end-stage renal disease in children. However, long-term graft survival has not significantly improved among pediatric patients. OBJECTIVE: To investigate the determinants of long-term graft survival among Iranian pediatric recipients of kidney transplantation. METHODS: In a single-center cohort study, we studied 314 pediatric kidney transplantations performed from 1989 to 2013 at Dr...
2017: International Journal of Organ Transplantation Medicine
https://www.readbyqxmd.com/read/28764885/plasma-oxalate-in-relation-to-egfr-in-patients-with-primary-hyperoxaluria-enteric-hyperoxaluria-and-urinary-stone-disease
#11
Majuran Perinpam, Felicity T Enders, Kristin C Mara, Lisa E Vaughan, Ramila A Mehta, Nickolay Voskoboev, Dawn S Milliner, John C Lieske
BACKGROUND: Since plasma oxalate (POx) concentrations increase at lower glomerular filtration rate (GFR) levels, even among those without enteric (EH) or primary hyperoxaluria (PH), the appropriate thresholds for considering a disorder of oxalate metabolism are poorly defined. The current study was completed to establish relationships between POx, GFR, and urine oxalate excretion (UOx) among patients with PH, EH, and routine urinary stone disease (USD). METHODS: The most recent POx measurement on all Mayo Clinic patients between 2005 and 2015 were electronically pulled from the Lab Information System together with the closest serum creatinine within 14days and 24h urine study within 60days...
July 29, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28752386/glycolate-oxidase-deficiency-in-a-patient-with-congenital-hyperinsulinism-and-unexplained-hyperoxaluria
#12
Oliver Clifford-Mobley, Gill Rumsby, Swati Kanodia, Mohammed Didi, Richard Holt, Senthil Senniappan
BACKGROUND: A baby girl was born at 39 weeks gestation to consanguineous Asian parents. From day 1 of life she had severe hypoglycaemia with an inappropriately elevated insulin concentration consistent with congenital hyperinsulinism (CHI), confirmed by the finding of a homozygous mutation in ABCC8 (encoding the sulfonylurea receptor 1). CASE DIAGNOSIS/TREATMENT: Urine organic acid analysis showed an incidentally elevated excretion of glycolate. Whilst this was unlikely to contribute to the hypoglycaemia, hyperglycolic aciduria is a known feature of primary hyperoxaluria type 1 (PH1); therefore oxalate was also measured in urine and found to be elevated...
July 27, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28739328/a-case-of-oxalate-nephropathy-when-a-single-cause%C3%A2-is%C3%A2-not%C3%A2-crystal-clear
#13
Sofia Marques, Sofia Santos, Kimberly Fremin, Agnes B Fogo
Hyperoxaluria can result in oxalate nephropathy with intratubular calcium oxalate crystallization and acute tubular injury. Primary inherited enzymatic deficiency or secondary causes such as excessive dietary intake, enteric increased absorption, or high doses of vitamin C, which is metabolized to oxalate, may underlie hyperoxaluria and oxalate nephropathy. We report a case of acute kidney injury due to oxalate nephropathy in a patient using chelating therapy with oral ethylenediamine tetra acetic acid (EDTA), intravenous supplementation with vitamin C, and chronic diarrhea and discuss the potential kidney damage these factors can cause in particular settings...
July 21, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28728813/central-nervous-system-involvement-in-primary-hyperoxaluria-demonstrated-by-brain-ultrasonography
#14
EDITORIAL
Ana Alarcon
No abstract text is available yet for this article.
July 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28718073/a-randomised-phase-ii-iii-study-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#15
Dawn Milliner, Bernd Hoppe, Jaap Groothoff
Primary hyperoxaluria (PH) patients overproduce oxalate because of rare genetic errors in glyoxylate metabolism. Recurrent urolithiasis and/or progressive nephrocalcinosis are PH hallmarks and can lead to kidney damage, systemic oxalosis and death. Based on previous studies, we hypothesised that treatment with the oxalate-metabolizing bacterium Oxalobacter formigenes would mediate active elimination of oxalate from the plasma to the intestine of PH patients, thereby reducing urinary oxalate excretion (Uox)...
July 17, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28717544/is-it-safe-to-prescribe-ascorbic-acid-for-urinary-acidification-in-stone-forming-patients-with-alkaline-urine
#16
Yasser A Noureldin, Alexandrine da Silva, Nader Fahmy, Sero Andonian
OBJECTIVE: To study the effect of ascorbic acid (AA) supplementation on urinary pH, metabolic stone workup parameters, and development of de novo urolithiasis in stone-forming patients. MATERIAL AND METHODS: A retrospective review of the patients followed-up at a tertiary stone centre between September 2009 and October 2015 was performed. Patients with recurrent urolithiasis who received AA supplementation as a urinary acidifying agent were included in the study...
June 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28711958/systematic-assessment-of-urinary-hydroxy-oxo-glutarate-for-diagnosis-and-follow-up-of-primary-hyperoxaluria-type-iii
#17
Ada Ventzke, Markus Feldkötter, Andrew Wei, Jutta Becker, Bodo B Beck, Bernd Hoppe
BACKGROUND: There are currently three distinct autosomal recessive inherited types of primary hyperoxaluria (PH: PHI, PHII, and PHIII), all characterized by the endogenous overproduction of oxalate. The PH type is difficult to differentiate by clinical features alone. In addition to universal general characteristics to all hyperoxaluria subtypes, specific urinary metabolites can be detected: glycolate in PHI, L-glyceric acid in PHII, and hydroxy-oxo-glutarate (HOG) in PHIII. PHIII is considered to be the most benign form and is characterized by severe recurrent urolithiasis in early life, followed by clinical remission in many, but not all patients...
July 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28689648/clinical-and-genetic-characterization-of-chinese-pediatric-cystine-stone-patients
#18
Luming Shen, Xiaoming Cong, Xin Zhang, Ninghong Wang, Ping Zhou, Yan Xu, Qingyi Zhu, Xiaojian Gu
INTRODUCTION: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries. OBJECTIVE: To investigate the characteristics of Chinese pediatric cystine stone patients. PATIENTS AND METHODS: Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated...
June 24, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28681512/combined-liver-kidney-transplantation-for-primary-hyperoxaluria-type-2-a-case-report
#19
T Dhondup, E C Lorenz, D S Milliner, J C Lieske
Combined liver/kidney transplant is the preferred transplant option for most patients with primary hyperoxaluria type 1 (PH1) since orthotopic liver transplantation replaces the deficient liver-specific AGT enzyme, thus restoring normal metabolic oxalate production. However, primary hyperoxaluria type 2 (PH2) is caused by deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR), and this enzyme is widely distributed throughout the body. Though the relative abundance and activity of GRHPR in various tissues is not clear, some evidence suggests that the majority of enzyme activity may indeed reside within the liver...
July 6, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28660284/primary-hyperoxaluria-in-populations-of-pakistan-origin-results-from-a-literature-review-and-two-major-registries
#20
REVIEW
Jamsheer Jehangir Talati, Sally-Anne Hulton, Sander F Garrelfs, Wajahat Aziz, Shoaib Rao, Amanullah Memon, Zafar Nazir, Raziuddin Biyabani, Saqib Qazi, Iqbal Azam, Aysha Habib Khan, Jamil Ahmed, Lena Jafri, Mohammad Zeeshan
Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undifferentiated hyperoxaluria is seen in up to 43% of Pakistani paediatric stone patients. High rates of consanguinity in Pakistan suggest significant local prevalence. There is no detailed information regarding number of cases, clinical features, and genetics in Pakistan-origin (P-o) patients. We reviewed available information on P-o PH patients recorded in the literature as well as from two major PH registries (the Rare Kidney Stone Consortium PH Registry (RKSCPHR) and the OxalEurope PH Registry (OxER); and the Aga Khan University Hospital in Pakistan...
June 28, 2017: Urolithiasis
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