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Primary hyperoxaluria

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https://www.readbyqxmd.com/read/29416283/metabolic-evaluation-of-children-with-urolithiasis
#1
Vijayabhaskar Reddy Gouru, Vedamurthy Reddy Pogula, Surya Prakash Vaddi, Venu Manne, Ranadheer Byram, Lalith Sagar Kadiyala
Aim: The aim of the study is to identify the prevalence of metabolic abnormalities in children with urolithiasis. Materials and Methods: This is a prospective study; all children below 15 years who are found to have urolithiasis were prospectively evaluated with relevant history, clinical examination, and urine and serum testing. Metabolic workup includes complete urine examination, urine culture and sensitivity, and 24-h urinary analysis (lithorisk profile). Results: A total of 55 patients are included in the study...
January 2018: Urology Annals
https://www.readbyqxmd.com/read/29370645/re-use-of-polymer-conjugates-for-the-intraperoxisomal-delivery-of-engineered-humanalanine-glyoxylate-aminotransferase-as-a-protein-therapy-for-primary-hyperoxaluria-type-i
#2
https://www.readbyqxmd.com/read/29322327/combined-and-sequential-liver-kidney-transplantation-in-children
#3
Ryszard Grenda, Piotr Kaliciński
Combined and sequential liver-kidney transplantation (CLKT and SLKT) is a definitive treatment in children with end-stage organ failure. There are two major indications: - terminal insufficiency of both organs, or - need for transplanting new liver as a source of lacking enzyme or specific regulator of the immune system in a patient with renal failure. A third (uncommon) option is secondary end-stage renal failure in liver transplant recipients. These three clinical settings use distinct qualification algorithms...
January 10, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29319775/primary-hiperoxaluria-diagnosed-after-kidney-transplantation-report-of-2-cases-and-literature-review
#4
John Fredy Nieto Rios, Monica Zuluaga, Lina Maria Serna Higuita, Adriana Florez, Diana Carolina Bello-Marquez, Arbey Aristizábal, Catalina Ocampo Kohn, Gustavo Adolfo Zuluaga
Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation...
October 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29285432/type-1-primary-hyperoxaluria-in-a-male-infant
#5
Benjamin Waddell, Daniel McKenney
No abstract text is available yet for this article.
December 2017: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/29244539/genotype-phenotype-variability-of-retinal-manifestation-in-primary-hyperoxaluria-type-1
#6
S Dulz, E Bigdon, Y Atiskova, F Schuettauf, R Cerkauskiene, J Oh, F Brinkert
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations...
December 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29243158/bilateral-native-nephrectomy-to-reduce-oxalate-stores-in-children-at-the-time-of-combined-liver-kidney-transplantation-for-primary-hyperoxaluria-type-1
#7
Eliza Lee, Gabriel Ramos-Gonzalez, Nancy Rodig, Scott Elisofon, Khashayar Vakili, Heung Bae Kim
OBJECTIVE: Primary hyperoxaluria type-1 (PH-1) is a rare genetic disorder in which normal hepatic metabolism of glyoxylate is disrupted resulting in diffuse oxalate deposition and end-stage renal disease (ESRD). While most centers agree that combined liver-kidney transplant (CLKT) is the appropriate treatment for PH-1, perioperative strategies for minimizing recurrent oxalate-related injury to the transplanted kidney remain unclear. We present our management of children with PH-1 and ESRD on hemodialysis (HD) who underwent CLKT at our institution from 2005 to 2015...
December 14, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29241624/the-macrophage-phenotype-and-inflammasome-component-nlrp3-contributes-to-nephrocalcinosis-related-chronic-kidney-disease-independent-from-il-1-mediated-tissue-injury
#8
Hans-Joachim Anders, Beatriz Suarez-Alvarez, Melissa Grigorescu, Orestes Foresto-Neto, Stefanie Steiger, Jyaysi Desai, Julian A Marschner, Mohsen Honarpisheh, Chongxu Shi, Jutta Jordan, Lisa Müller, Nicolai Burzlaff, Tobias Bäuerle, Shrikant R Mulay
Primary/secondary hyperoxalurias involve nephrocalcinosis-related chronic kidney disease (CKD) leading to end-stage kidney disease. Mechanistically, intrarenal calcium oxalate crystal deposition is thought to elicit inflammation, tubular injury and atrophy, involving the NLRP3 inflammasome. Here, we found that mice deficient in NLRP3 and ASC adaptor protein failed to develop nephrocalcinosis, compromising conclusions on nephrocalcinosis-related CKD. In contrast, hyperoxaluric wild-type mice developed profound nephrocalcinosis...
December 11, 2017: Kidney International
https://www.readbyqxmd.com/read/29236977/gene2drug-a-computational-tool-for-pathway-based-rational-drug-repositioning
#9
Francesco Napolitano, Diego Carrella, Barbara Mandriani, Sandra Pisonero, Francesco Sirci, Diego Medina, Nicola Brunetti-Pierri, Diego di Bernardo
Motivation: Drug repositioning has been proposed as an effective shortcut to drug discovery. The availability of large collections of transcriptional responses to drugs enables computational approaches to drug repositioning directly based on measured molecular effects. Results: We introduce a novel computational methodology for rational drug repositioning, which exploits the transcriptional responses following treatment with small molecule. Specifically, given a therapeutic target gene, a prioritisation of potential effective drugs is obtained by assessing their impact on the transcription of genes in the pathway(s) including the target...
December 11, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29198962/-type%C3%A2-1-primary%C3%A2-hyperoxaluria-from%C3%A2-childhood-to%C3%A2-adult-how-to%C3%A2-manage-adequately-medical-therapy-compliance
#10
Marie Leflot, Jean-Marie Krzesinski, Laure Collard, Alexandre Thomas, Marie-Sophie Ghuysen
We report the cases of three young patients suffering from type 1 primary hyperoxaluria, a metabolic genetic disorder characterized by intracellular accumulation of oxalate and which may result in end-stage renal disease with systemic impairment. A number of effective conservative therapeutic means are available for early management of affected children particularly when he is growing older. Despite the demonstrated efficacy of conservative therapy, compliance represents a major and daily challenge. Monitoring therapeutic compliance is thus an important task for physicians in charge of this disease...
November 29, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#11
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/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
#12
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
#13
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...
February 2018: 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
#14
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/29071511/folding-defects-leading-to-primary-hyperoxaluria
#15
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
#16
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/29031489/-pediatric%C3%A2-nephrology-what%C3%A2-should-an%C3%A2-adult%C3%A2-nephrologist-know-about%C3%A2-these%C3%A2-diseases
#17
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
#18
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
#19
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
#20
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
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