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Primary hyperoxaluria

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https://www.readbyqxmd.com/read/29914758/specific-inhibition-of-hepatic-lactate-dehydrogenase-reduces-oxalate-production-in-mouse-models-of-primary-hyperoxaluria
#1
Chengjung Lai, Natalie Pursell, Jessica Gierut, Utsav Saxena, Wei Zhou, Michael Dills, Rohan Diwanji, Chaitali Dutta, Martin Koser, Naim Nazef, Rachel Storr, Boyoung Kim, Cristina Martin-Higueras, Eduardo Salido, Weimin Wang, Marc Abrams, Henryk Dudek, Bob D Brown
Primary hyperoxalurias (PHs) are autosomal recessive disorders caused by the overproduction of oxalate leading to calcium oxalate precipitation in the kidney and eventually to end-stage renal disease. One promising strategy to treat PHs is to reduce the hepatic production of oxalate through substrate reduction therapy by inhibiting liver-specific glycolate oxidase (GO), which controls the conversion of glycolate to glyoxylate, the proposed main precursor to oxalate. Alternatively, diminishing the amount of hepatic lactate dehydrogenase (LDH) expression, the proposed key enzyme responsible for converting glyoxylate to oxalate, should directly prevent the accumulation of oxalate in PH patients...
June 15, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29882304/primary-hyperoxaluria-orthodontic-management-in-a-pediatric-patient-a-case-report
#2
A P Cazzolla, K Zhurakivska, D Ciavarella, M G Lacaita, G Favia, N F Testa, G Marzo, V La Carbonara, G Troiano, L Lo Muzio
AIMS: The aim of this study is to report the case of the orthodontic treatment in a patient affected by primary hyperoxaluria type 1 and subjected to a combinate liver-kidney transplant. METHODS AND RESULTS: The 9-year patient was admitted to our department for the presence of facial dysmorphism. The patient was affected by primary hyperoxaluria type 1 and has undergone a combined liver-kidney transplantation. At the time of the visit, he was in treatment with immunosuppressive drugs and received a corticosteroid and an antibiotic therapy monthly...
June 8, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29777253/translation-inhibition-corrects-aberrant-localization-of-mutant-alanine-glyoxylate-aminotransferase-possible-therapeutic-approach-for-hyperoxaluria
#3
Ruth Belostotsky, Roman Lyakhovetsky, Michael Y Sherman, Fanny Shkedy, Shimrit Tzvi-Behr, Roi Bar, Bernd Hoppe, Björn Reusch, Bodo B Beck, Yaacov Frishberg
Primary hyperoxaluria type 1 is a severe kidney stone disease caused by abnormalities of the peroxisomal alanine-glyoxylate aminotransferase (AGT). The most frequent mutation G170R results in aberrant mitochondrial localization of the active enzyme. To evaluate the population of peroxisome-localized AGT, we developed a quantitative Glow-AGT assay based on the self-assembly split-GFP approach and used it to identify drugs that can correct mislocalization of the mutant protein. In line with previous reports, the Glow-AGT assay showed that mitochondrial transport inhibitors DECA and monensin increased peroxisomal localization of the mutant...
May 18, 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29738022/association-between-glomerular-filtration-rate-measured-by-high-performance-liquid-chromatography-with-iohexol-and-plasma-oxalate
#4
Luciano da Silva Selistre, Pierre Cochat, Dener Lizot Rech, François Parant, Vandréa Carla de Souza, Laurence Dubourg
INTRODUCTION: Secondary hyperoxalemia is a multifactorial disease that affects several organs and tissues in patients with native or transplanted kidneys. Plasma oxalate may increase during renal failure because it is cleared from the body by the kidneys. However, there is scarce evidence about the association between glomerular filtration rate and plasma oxalate, especially in the early stages of chronic kidney disease (CKD). METHODS: A case series focuses on the description of variations in clinical presentation...
April 9, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29705963/metabolite-diagnosis-of-primary-hyperoxaluria-type-3
#5
Lawrence Greed, Frank Willis, Lilian Johnstone, Sharon Teo, Ruth Belostotsky, Yaacov Frishberg, James Pitt
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is a recently described cause of childhood renal calculi. It results from mutations in the HOGA1 gene and most cases have been diagnosed after clinical ascertainment, exclusion of other genetic hyperoxalurias and mutation testing. Metabolite testing has not been widely applied but holds promise for the rapid screening and diagnosis of patients who are not specifically suspected to have PH3. CASE-DIAGNOSIS/TREATMENT: Two cases presented with renal calculi...
April 28, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29676375/bone-marrow-oxalosis-an-unusual-cause-of-cytopenia-in-end-stage-renal-disease-report-of-two-cases
#6
Seema Sharma, Ram Nawal Rao, Krushna Chandra Pani, Paramita Paul
Systemic oxalosis can be either primary or secondary hyperoxaluria. Oxalosis is a phenomenon in which calcium oxalate crystals deposit in various visceral organs leading to bone marrow (BM) failure and recurrent renal stones. We describe two rare cases of BM oxalosis. Hyperoxaluria is strongly associated with nephrolithiasis and nephrocalcinosis. Both the patients presented with recurrent renal stones and a variable degree of BM failure. BM oxalosis should be considered as a possible diagnosis in patients in recurrent nephrolithiasis and cytopenia...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29642351/re-plasma-oxalate-in-relation-to-egfr-in-patients-with-primary-hyperoxaluria-enteric-hyperoxaluria-and-urinary-stone-disease
#7
Dean G Assimos
No abstract text is available yet for this article.
April 2018: Journal of Urology
https://www.readbyqxmd.com/read/29588429/hydroxyproline-metabolism-and-oxalate-synthesis-in-primary-hyperoxaluria
#8
Sonia Fargue, Dawn S Milliner, John Knight, Julie B Olson, W Todd Lowther, Ross P Holmes
Background Endogenous oxalate synthesis contributes to calcium oxalate stone disease and is markedly increased in the inherited primary hyperoxaluria (PH) disorders. The incomplete knowledge regarding oxalate synthesis complicates discovery of new treatments. Hydroxyproline (Hyp) metabolism results in the formation of oxalate and glycolate. However, the relative contribution of Hyp metabolism to endogenous oxalate and glycolate synthesis is not known. Methods To define this contribution, we performed primed, continuous, intravenous infusions of the stable isotope [15 N,13 C5 ]-Hyp in nine healthy subjects and 19 individuals with PH and quantified the levels of urinary 13 C2 -oxalate and 13 C2 -glycolate formed using ion chromatography coupled to mass detection...
June 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29545831/recurrent-primary-hyperoxaluria-type-2-leads-to-early-post-transplant-renal-function-loss-a-case-report
#9
Si Liu, Baoshan Gao, Gang Wang, Weigang Wang, Xin Lian, Shan Wu, Jinyu Yu, Yaowen Fu, Honglan Zhou
Primary hyperoxaluria type 2 is a rare autosomal recessive disorder caused by glyoxylate reductase/hydroxypyruvate reductase deficiency and characterized by recurrent episodes of nephrolithiasis and nephrocalcinosis. Herein, we describe a case of primary hyperoxaluria type 2 in a 33-year-old man who failed to respond to conventional therapies; thus renal transplantation was performed. This case demonstrated that, although primary hyperoxaluria type 2 is rare, hyperoxaluria should be suspected and blood oxalate and stone component be examined in patients with recurrent episodes of nephrolithiasis, particularly in those who are unresponsive to conventional therapies...
April 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29539912/re-an-investigational-rnai-therapeutic-targeting-glycolate-oxidase-reduces-oxalate-production-in-models-of-primary-hyperoxaluria
#10
Dean G Assimos
No abstract text is available yet for this article.
May 2017: Journal of Urology
https://www.readbyqxmd.com/read/29456205/mutational-analysis-of-agxt-gene-in-libyan-children-with-primary-hyperoxaluria-type-1-at-tripoli-children-hospital
#11
Naziha R Rhuma, Omar A Fituri, Laila T Sabei
Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from genetic mutation of the AGXT gene. The study objective was to verify the clinical and epidemiological patterns of PH1 in Libyan children at Tripoli Children Hospital confirmed by AGXT gene mutation. A descriptive case series study of 53 children with PH1 diagnosed between 1994 and 2015 was carried out in the Nephrology Unit at Tripoli Children Hospital. Diagnosis of PH1 was based on the clinical presentation (renal stones or nephrocalcinosis), positive family history of PH1, and high 24 h urinary oxalate...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29416283/metabolic-evaluation-of-children-with-urolithiasis
#12
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
#13
https://www.readbyqxmd.com/read/29322327/combined-and-sequential-liver-kidney-transplantation-in-children
#14
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
#15
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
#16
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
#17
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...
April 2018: 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
#18
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...
May 2018: 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
#19
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...
March 2018: Kidney International
https://www.readbyqxmd.com/read/29236977/gene2drug-a-computational-tool-for-pathway-based-rational-drug-repositioning
#20
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
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