Results 11 to 20 of about 7,701 (216)

A Case Study and Review of the Literature on IgA Nephropathy in Crohn's Disease. [PDF]

Clin Case Rep
ABSTRACT IgA nephropathy (IgAN) is the most frequently reported glomerular disease associated with inflammatory bowel disease (IBD), particularly Crohn's disease (CD), although pediatric cases remain rare. We report IgAN in a 16‐year‐old male with CD following intestinal surgery and during long‐term infliximab therapy, with renal impairment occurring ...
Vazzana GF, Romano A, Casuscelli C, La Spada A, Santoro D, Chimenz R, Romano C.   +6 more
europepmc   +2 more sources

Obesity and kidney stone disease. A systematic review [PDF]

, 2018
INTRODUCTION: Currently, abdominal obesity has reached an epidemic stage and obesity represents an important challenge for worldwide health authorities. Epidemiologic studies have demonstrated that the stone risk incidence increases with Body Mass Index,
AL SALHI, Yazan, Bozzini, Giorgio, Carbone, Antonio, DE NUNZIO, Cosimo, Fuschi, Andrea, Mazzaferro, Sandro, Palleschi, Giovanni, Pastore, ANTONIO LUIGI, Tasca, Andrea   +8 more
core   +1 more source

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

A case of failure to thrive secondary to primary hyperoxaluria type 1

Radiology Case Reports, 2020
Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of ...
Rachel Stern, MD, Vicky Kuo, MD, Sarah Rogal, MD, MPH, Carly Barron, MD, Raidour Ahmed, MD, Bernard Goldwasser, MD   +5 more
doaj   +1 more source

Purslane-induced oxalate nephropathy: case report and literature review

BMC Nephrology, 2023
Background The kidney is particularly vulnerable to toxins due to its abundant blood supply, active tubular reabsorption, and medullary interstitial concentration.
Xiangtuo Wang, Xiaoyan Zhang, Liyuan Wang, Ruiying Zhang, Yingxuan Zhang, Lei Cao   +5 more
doaj   +1 more source

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

Chemical Chaperones Improve Protein Secretion and Rescue Mutant Factor VIII in Mice with Hemophilia A. [PDF]

, 2012
nefficient intracellular protein trafficking is a critical issue in the pathogenesis of a variety of diseases and in recombinant protein production.
Abriss, Daniela, Milanov, Peter, Pepperkok, Rainer, Quade-Lyssy, Patricia, Roth, Stefanie D., Schüttrumpf, Jörg, Seifried, Erhard, Simpson, Jeremy C., Tonn, Torsten, Ungerer, Christopher   +9 more
core   +2 more sources

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

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +1 more source

Late onset primary hyperoxaluria after kidney transplantation in a 36-year-old woman [PDF]

Journal of Nephropathology
Primary hyperoxaluria is a rare congenital autosomal recessive disorder disrupting the glyoxylate metabolism pathway in the liver. Type1 primary hyperoxaluria is caused by a deficiency in a specific liver enzyme namely, alanine glyoxylate ...
Amirhesam Alirezaei, Hamed Ebrahimibagha, Mahmoud Parvin, Majid Ali Asgari, Leyla Bagheri   +4 more
doaj   +1 more source