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https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#1
Shatha Murad, Yuval Eisenberg
OBJECTIVE: Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder of oxalate overproduction. It is associated with urolithiasis and nephrocalcinosis which progress to ESRD and systemic oxalosis. As oxalate deposits in tissues, non-parathyroid hormone (nonPTH) mediated hypercalcemia, oxalate osteopathy, primary hypothyroidism and primary hypogonadism develop. In this review, we will present a case of PH1 and provide an overview of this clinical entity and its endocrine manifestations...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29133578/orlistat-induced-oxalate-nephropathy-an-under-recognised-cause-of-chronic-kidney-disease
#2
Laurence Richard Solomon, Andrew Christopher Nixon, Leanne Ogden, Beena Nair
Two patients developed kidney failure due to oxalate deposition in the kidney while taking orlistat. Cessation of orlistat was followed by partial recovery of kidney function. The mechanism by which orlistat causes hyperoxaluria and the management of orlistat-induced oxalate nephropathy is reviewed. We suggest that all patients taking orlistat are at risk of this condition, which may develop insidiously and is easily overlooked. Monitoring of kidney function of patients taking orlistat is warranted.
November 12, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29110180/correlation-between-the-molecular-effects-of-mutations-at-the-dimer-interface-of-alanine-glyoxylate-aminotransferase-leading-to-primary-hyperoxaluria-type-i-and-the-cellular-response-to-vitamin-b6
#3
Mirco Dindo, Elisa Oppici, Daniele Dell'Orco, Rosa Montone, Barbara Cellini
Primary hyperoxaluria type I (PH1) is a rare disease caused by the deficit of liver alanine-glyoxylate aminotransferase (AGT). AGT prevents oxalate formation by converting peroxisomal glyoxylate to glycine. When the enzyme is deficient, progressive calcium oxalate stones deposit first in the urinary tract and then at the systemic level. Pyridoxal 5'-phosphate (PLP), the AGT coenzyme, exerts a chaperone role by promoting dimerization, as demonstrated by studies at protein and cellular level. Thus, variants showing a destabilized dimeric structure should, in principle, be responsive to vitamin B6, a precursor of PLP...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29106285/liver-kidney-simultaneous-transplantation-in-adult-patients-with-primary-hyperoxaluria-experience-at-hospital-universitario-12-de-octubre
#4
Javier Martínez Caballero, Alberto Marcacuzco Quinto, Iago Justo Alonso, Oana Anisa Nutu, Alejandro Manrique Municio, Jorge Calvo Pulido, Félix Cambra Molero, Óscar Caso Maestro, Carlos Jiménez Romero
Primary hyperoxaluria (PH) is a metabolic liver disease with an autosomal recessive inheritance that results in oxalate overproduction that cannot be metabolized by the liver. Urinary excretion of oxalate results in lithiasis and nephrocalcinosis leading to a progressive loss of renal function that often requires renal replacement therapy despite medical treatment. Type 1 PH is the most common form and is due to a deficiency in the alanine-glycolate aminotransferase enzyme found in hepatic peroxisomes. Therefore, a liver-kidney simultaneous transplant (LKST) is the definitive treatment for end-stage renal disease (ESRD) patients...
November 6, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29102553/type-1-primary-hyperoxaluria-a-case-report-and-focus-on-bone-impairment-of-systemic-oxalosis
#5
L Pijnenburg, S Caillard, G Boivin, S Rizzo, R M Javier
Primary hyperoxaluria is a rare genetic disorder characterized by oxalate overproduction, leading to kidney failure due to nephrocalcinosis, and is eventually responsible for systemic oxalosis. Bone impairment, secondary to oxalate deposits, is one of the many complications that may occur. Skeletal involvement can be difficult to diagnose because of lack of clinical symptoms and therefore needs to be confirmed by invasive testing, such as transiliac bone biopsy. If confirmed, bone oxalosis is the proof of disease severity and that combined liver-kidney transplantation should be performed...
November 1, 2017: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/29091707/transcriptional-study-of-hyperoxaluria-and-calcium-oxalate-nephrolithiasis-in-male-rats-inflammatory-changes-are-mainly-associated-with-crystal-deposition
#6
Sunil Joshi, Wei Wang, Saeed R Khan
Hyperoxaluria associated with renal deposition of calcium oxalate (CaOx) crystals causes renal injury and inflammation leading to number of diseases including chronic kidney disease (CKD). It is however, not been possible to separate the renal consequences of hyperoxaluria from that of CaOx crystal deposition. We decided to utilize ethylene glycol (EG) model where hyperoxaluria and CaOx crystal deposition can be separated in time. To test our hypothesis, male rats were made hyperoxaluric by administering EG, rats were euthanized and kidneys were extracted on day 14, when occasional crystal is seen in the kidneys and day 28, when all animals have developed renal CaOx crystal deposits...
2017: PloS One
https://www.readbyqxmd.com/read/29071511/folding-defects-leading-to-primary-hyperoxaluria
#7
Elisa Oppici, Mirco Dindo, Carolina Conter, Carla Borri Voltattorni, Barbara Cellini
Protein misfolding is becoming one of the main mechanisms underlying inherited enzymatic deficits. This review is focused on primary hyperoxalurias, a group of disorders of glyoxylate detoxification associated with massive calcium oxalate deposition mainly in the kidneys. The most common and severe form, primary hyperoxaluria Type I, is due to the deficit of liver peroxisomal alanine/glyoxylate aminotransferase (AGT). Various studies performed in the last decade clearly evidence that many pathogenic missense mutations prevent the AGT correct folding, leading to various downstream effects including aggregation, increased degradation or mistargeting to mitochondria...
October 26, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29066173/anemia-in-patient-with-primary-hyperoxaluria-and-bone-marrow-involvement-by-oxalate-crystals
#8
Vitaliy Mykytiv, Fiz Campoy Garcia
We present a rare case of anaemia secondary to bone marrow infiltration by oxalate crystals and renal failure in a patient diagnosed with primary hyperoxaluria. In our case, the anaemia was recovered after the double liver and kidney transplantation, the latter was performed on two occasions after the failure of the first graft.
October 16, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/29059766/re-oxalobacter-formigenes-colonization-normalizes-oxalate-excretion-in-a-gastric-bypass-model-of-hyperoxaluria
#9
Dean G Assimos
No abstract text is available yet for this article.
November 2017: Journal of Urology
https://www.readbyqxmd.com/read/29054721/characterizing-the-association-between-toll-like-receptor-subtypes-and-nephrolithiasis-with-renal-inflammation-in-an-animal-model
#10
Mahmut Taha Olcucu, Kerem Teke, Serdar Yalcin, Erkan Olcucuoglu, Vildan Caner, Nilay Sen Turk, Omer Levent Tuncay
OBJECTIVES: To show experimentally induced renal stone disease and evaluate secondary inflammatory responses in vivo, and to characterize changes in expression of Toll-like receptor (TLR) subtypes in this model. To evaluate the associations of hyperoxaluria-induced renal stone formation and Toll-like receptors (TLRs) expression in a rat inflammation model. METHODS: Twenty 5-6-week-old male Wistar rats were divided into control and hyperoxaluria groups (n=10/group) and supplied with normal water or 1% ethylene glycol, respectively, for 16 weeks...
October 17, 2017: Urology
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
#11
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/28980857/oral-administration-of-oxalate-enriched-spinach-extract-as-an-improved-methodology-for-the-induction-of-dietary-hyperoxaluric-nephrocalcinosis-in-experimental-rats
#12
Abhishek Albert, Vidhi Tiwari, Eldho Paul, Sasikumar Ponnusamy, Divya Ganesan, Rajkumar Prabhakaran, Selvi Mariaraj Sivakumar, Selvam Govindan Sadasivam
Experimental induction of hyperoxaluria by ethylene glycol (EG) administration is disapproved as it causes metabolic acidosis while the oral administration of chemically synthesized potassium oxalate (KOx) diet does not mimic our natural system. Since existing models comprise limitations, this study is aimed to develop an improved model for the induction of dietary hyperoxaluria, and nephrocalcinosis in experimental rats by administration of naturally available oxalate rich diet. Male albino Wistar rats were divided into five groups...
October 24, 2017: Toxicology Mechanisms and Methods
https://www.readbyqxmd.com/read/28976347/-lithogenic-risk-index-in-urinary-lithiasis-patients-and-their-evolution-after-treatment
#13
Rosa Guillén, Carlos Ramos, Roger Ayala, Patricia Funes, Irene Ruiz, Jorge Zenteno, Liliana Sosa, Gloria Echague
OBJECTIVE: To determine the lithogenic risk index and its evolution after treatment of paraguayan lithiasic patients. METHODS: This experimental study of temporal series included 28 lithiasic patients of both sexes that attended to the Instituto de Prevision Social in 2012. Basal evaluation included metabolic study and urinary saturation indexes determined by EQUIL software. With this data, a specific treatment was selected for each patient. The follow up included a medical consultation monthly and the metabolic evaluation after 6 month...
October 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28975090/chronic-dietary-oxalate-nephropathy-after-intensive-dietary-weight-loss-regimen
#14
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
#15
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
#16
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/28943597/changes-of-klotho-protein-and-klotho-mrna-expression-in-a-hydroxy-l-proline-induced-hyperoxaluric-rat-model
#17
Orapun Jaturakan, Chollada Buranakarl, Thasinas Dissayabutra, Narongsak Chaiyabutr, Anusak Kijtawornrat, Anudep Rungsipipat
Klotho protein is recognized as having a renoprotective effect and is used as a biomarker for kidney injury. We investigated the level of Klotho protein in hyperoxaluria-induced kidney injury and the effects of vitamin E (Vit E) and vitamin C (Vit C) supplementation. Hyperoxaluria was induced by feeding 2% (w/v) Hydroxy-L-proline (HLP) in the drinking water for 21 days. Rats were divided into 5 groups; control (Group 1, n=7), HLP treated rats that received nothing else (Group 2, n=7), Vit E (Group 3, n=6), Vit C (Group 4, n=6) and both Vit E and Vit C (Group 5, n=7)...
September 23, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28937064/nephrocalcinosis-among-children-at-king-hussein-medical-center-causes-and-outcome
#18
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
#19
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/electrostatic-interactions-drive-native-like-aggregation-of-human-alanine-glyoxylate-aminostransferase
#20
Mirco Dindo, Carolina Conter, Barbara Cellini
Protein aggregate 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
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