Results 11 to 20 of about 4,810 (156)

Surgical Management of Pediatric Primary Hyperoxaluria Type 1: An Eight-Patient Case Series in the Pre-siRNA Era. [PDF]

Pediatr Transplant
ABSTRACT Background Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder that leads to systemic oxalosis and end‐stage renal disease (ESRD). Before the advent of siRNA therapy, liver transplantation, often combined with kidney transplantation, was the only definitive treatment.
Finer G, Darani AN, Switalski MG, Ward SE, Melin-Aldana H, Superina R.   +5 more
europepmc   +2 more sources

LNP-mediated in vivo base editing corrects Agxt to cure primary hyperoxaluria type 1. [PDF]

Clin Transl Med
The base editor precisely corrected the Agxt gene with high efficiency in PH1 rats. LNP‐delivered ABE normalised urinary oxalate levels and prevented calculus formation. This study identified the minimal Agxt correction efficiency required for urinary oxalate normalisation.
Zhang D, Zheng R, Chen Z, Chen X, Yang L, Huo Y, Zhao Y, Huang J, Zhang D, Yin S, Li D, Geng H.   +11 more
europepmc   +2 more sources

Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1

Frontiers in Pediatrics, 2023
IntroductionCombined or sequential liver and kidney transplantation (CLKT/SLKT) restores kidney function and corrects the underlying metabolic defect in children with end-stage kidney disease in primary hyperoxaluria type 1 (PH1).
Sebastian Loos, Markus J. Kemper, Kaja Schmaeschke, Uta Herden, Lutz Fischer, Bernd Hoppe, Tanja Kersnik Levart, Enke Grabhorn, Raphael Schild, Jun Oh, Jun Oh, Jun Oh, Florian Brinkert   +12 more
doaj   +1 more source

Primary Hyperoxaluria [PDF]

International Journal of Nephrology, 2011
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate.
Jérôme Harambat, Sonia Fargue, Justine Bacchetta, Cécile Acquaviva, Pierre Cochat   +4 more
openaire   +3 more sources

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism. [PDF]

J Inherit Metab Dis
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Keskinen T, Jalil S, Gümüşoğlu I, Juutila J, Kestilä N, Kuuluvainen E, Hietakangas V, Balboa D, Wartiovaara K, Hyvönen ME.   +9 more
europepmc   +2 more sources

Nephrolithiasis risk factors for obese patients on 24-hour urine collection metabolic evaluation. [PDF]

BJUI Compass
Abstract Objectives Twenty‐four‐hour urine collections are obtained as part of the metabolic workup for nephrolithiasis to identify modifiable abnormalities for stone prevention. We sought to discern trends in the prevalence of abnormalities based on body mass index (BMI) (kg/m2).
Sultan MI, Yamazaki S, Ibrahim SA, Haddad H, Abdelmalek A, Ali SN, Knoerzer MKT, Hammad MAM, Youssef RF.   +8 more
europepmc   +2 more sources

The Primary Hyperoxalurias [PDF]

Journal of the American Society of Nephrology, 2001
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations.
Marangella, M, PETRARULO, MICHELE, Vitale, C, Bagnis, C, Berutti, S, Ramello, A, Amoroso, A   +6 more
openaire   +5 more sources

Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus

Türk Kardiyoloji Derneği Arşivi, 2015
Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus ...
Nurcan Arat, Murat Akyıldız, Gürkan Tellioğlu, Yaman Tokat   +3 more
doaj   +1 more source

Transplantation for renal failure secondary to enteric hyperoxaluria: a case report

Journal of Medical Case Reports, 2007
Enteric hyperoxaluria can lead to renal failure. There have only been a few reports of renal transplantation as treatment of endstage renal disease secondary to enteric hyperoxaluria and results have been mixed. This report describes a patient with Crohn'
Rifkin Stephen I
doaj   +1 more source

Compliance in patients with dietary hyperoxaluria: A cohort study and systematic review

Asian Journal of Urology, 2019
Objective: Hyperoxaluria leads to calcium oxalate crystal formation and subsequent urolithiasis. This study aims to analyse the effect of treatment compliance in hyperoxaluria, firstly by analysis of patients with non-primary hyperoxaluria and secondly ...
Derek B. Hennessey, Ned Kinnear, Gilbert Rice, David Curry, Siobhan Woolsey, Brian Duggan   +5 more
doaj   +1 more source