keyword
MENU ▼
Read by QxMD icon Read
search

Primary hyperoxaluria

keyword
https://www.readbyqxmd.com/read/29676375/bone-marrow-oxalosis-an-unusual-cause-of-cytopenia-in-end-stage-renal-disease-report-of-two-cases
#1
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
#2
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
#3
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 urinary13 C2 -oxalate and13 C2 -glycolate formed using ion chromatography coupled to mass detection...
March 27, 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
#4
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
#5
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
#6
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
#7
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
#8
https://www.readbyqxmd.com/read/29322327/combined-and-sequential-liver-kidney-transplantation-in-children
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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-1-primary-hyperoxaluria-from-childhood-to-adult-how-to-manage-adequately-medical-therapy-compliance
#16
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
#17
REVIEW
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 end-stage renal disease 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...
December 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
#18
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
#19
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
#20
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
keyword
keyword
71509
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"