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Primary hyperoxaluria

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https://www.readbyqxmd.com/read/29031489/-pediatric%C3%A2-nephrology-what%C3%A2-should-an%C3%A2-adult%C3%A2-nephrologist-know-about%C3%A2-these%C3%A2-diseases
#1
Sandrine Lemoine, Pierre Cochat, Aurélia Bertholet-Thomas, Charlène Levi, Catherine Bonnefoy, Anne-Laure Sellier-Leclerc, Justine Bacchetta
In nephrology, some diseases begin specifically during childhood; however, they must be known by adult nephrologists so that to ensure continuity and homogeneity for their management. The aim of this review is therefore to propose a brief overview of the main pediatric diseases, for which a specific knowledge is warranted, and notably pediatric idiopathic nephrotic syndrome, cystinosis, primary hyperoxaluria and hereditaries tubulopathies.
October 11, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28975090/chronic-dietary-oxalate-nephropathy-after-intensive-dietary-weight-loss-regimen
#2
Gebran Khneizer, Ahmad Al-Taee, Meher S Mallick, Bahar Bastani
BACKGROUND: Hyperoxaluria has been associated with nephrolithiasis as well as acute and chronic kidney disease. We present a case of end stage renal failure caused by excessive dietary oxalate intake in a dietary weight loss regimen. CASE PRESENTATION: A 51-year-old Caucasian male with the past medical history of type 2 diabetes mellitus, gout, hypertension and morbid obesity was referred to the primary care clinic after being found pale and easily fatigued. The patient had lost 36 kg over a 7-month period by implementing exercise and intense dietary measures that included 6 meals of spinach, kale, berries, and nuts...
July 2017: Journal of Nephropathology
https://www.readbyqxmd.com/read/28969594/identification-of-compound-heterozygous-patients-with-primary-hyperoxaluria-type-1-clinical-evaluations-and-in-silico-investigations
#3
Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent renal failure if treatment is not initiated promptly. Mutations in the AGXT gene which encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase are responsible of PH1. In the present work, we aimed to analyze AGXT gene and in silico investigations performed in four patients with PH1 among two non consanguineous families...
October 2, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28943803/primary-hyperoxaluria-detected-by-bone-marrow-biopsy-case-report
#4
F Nachite, M Dref, A Fakhri, H Rais
BACKGROUND: Primary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow. The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions. CASE PRESENTATION: A young 22 year old chronic hemodialysis patient with nephrocalcinosis...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28911204/enhanced-vulnerability-of-human-proteins-towards-disease-associated-inactivation-through-divergent-evolution
#5
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
#6
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
#7
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/28859746/oxalosis-in-a-patient-with-livedo-reticularis
#8
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
#9
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/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/28711958/systematic-assessment-of-urinary-hydroxy-oxo-glutarate-for-diagnosis-and-follow-up-of-primary-hyperoxaluria-type-iii
#16
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/28681512/combined-liver-kidney-transplantation-for-primary-hyperoxaluria-type-2-a-case-report
#17
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
#18
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
https://www.readbyqxmd.com/read/28653383/hyperoxaluria-hyperglycoluria-and-renal-oxalosis-in-gilbert-s-potoroos-potorous-gilbertii
#19
D Forshaw, A M Horwitz, K Ellard, J A Friend, L Greed, M Metz
CASE REPORT: Six Gilbert's potoroos (Potorous gilbertii) in a captive colony, five of which were closely related, died or were euthanased with severe renal disease. Clinical signs were mostly non-specific. Renal calculi were seen on ultrasound of two affected potoroos and oxalate crystalluria was seen in two of three affected potoroos that had urine samples examined. Necropsies revealed extensive severe renal oxalosis in all affected potoroos. These findings and markedly increased concentrations of glycolate in the urine of the four affected potoroos for which it was measured, confirmed a disorder of oxalate metabolism and suggested a condition similar to primary hyperoxaluria type 1 in humans...
July 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28651815/crystal-clear-cerebral-ultrasound-images-mimicking-acute-asphyxia-in-an-infant-with-primary-hyperoxaluria
#20
Giulia Ardemani, Paul Govaert, Esmee Oussoren, Eiske Dorresteijn, Enno Wildschut, Maarten Lequin, Jeroen Dudink
Genetic deficiencies in enzymes involved in glyoxylate metabolism lead to primary hyperoxaluria (PH) type I, typically characterized by deposition of oxalate crystals in kidneys. A 2-month-old infant was admitted, and was diagnosed with renal failure. Abdominal ultrasound images revealed enlarged and hyperechoic kidneys. Additionally, on cerebral ultrasound (CUS) hyperechoic changes of thalami and basal ganglia were noted, reminiscent of perinatal hypoxic-ischemic brain damage. However, MRI of the brain did not show any abnormal signal intensities compatible with asphyxia...
June 15, 2017: European Journal of Paediatric Neurology: EJPN
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