Results 31 to 40 of about 3,609 (206)
Cystinuria: An Overview of Diagnosis and Medical Management [PDF]
, 2022 Cystinuria is a genetic disorder that causes recurrent nephrolithiasis. It is the most common type of monogenic stone disease accounting for 6%-8% of pediatric nephrolithiasis.
Department of Pediatrics, University of California +2 more
core +1 more source
CASE REPORT OF A PATIENT WITH CYSTINURIA
Slovenska pediatrija, 2020 Cystinuria is a rare genetic disease characterised by the appearance of kidney stones. Clinically, it is manifested by renal pain, fever or haematuria. In untreated patients, stones may cause urinary tract obstruction and endanger the kidney.
Matej Kemperle, Robert Kordič, Rina Rus
doaj +1 more source
Current Opinion in Nephrology & Hypertension, 2013 Cystinuria is a rare genetic disease with increased urinary excretion of the poorly soluble amino acid cystine. It can lead to significant morbidity in affected patients due to the often large and recurrent resulting kidney stones. Treatment is focused on the prevention of stone formation.
Nicola, Sumorok, David S, Goldfarb
openaire +2 more sources
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Iranian Journal of Public Health, 2021 Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi +4 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit +15 more
doaj +1 more source
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
Frontiers in Pediatrics, 2020 Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases,
Malak Alghamdi +9 more
doaj +1 more source
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
Journal of Research in Medical Sciences, 2017 Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1.
Samaneh Markazi +3 more
doaj +1 more source
THE GENETICS OF ‘CYSTINURIA’ [PDF]
Annals of Eugenics, 1951 The articles published by the Annals of Eugenics (1925–1954) have been made available online as an historical archive intended for scholarly use. The work of eugenicists was often pervaded by prejudice against racial, ethnic and disabled groups. The online publication of this material for scholarly research purposes is not an endorsement of those views
C E, DENT, H, HARRIS
openaire +2 more sources
Quantitative Susceptibility Mapping of Kidney Stones: An Ex Vivo MRI Phantom Study
Magnetic Resonance in Medicine, EarlyView.ABSTRACT Purpose To visualize and characterize the five most common kidney stone types based on their magnetic susceptibilities in MRI using QSM. Methods Three water‐based agar phantoms were constructed, containing a total of 53 ex vivo kidney stones of varying types and sizes.
Lion H. Mücke +8 more
wiley +1 more source
Kidney Stone, Nutritional Perceptions and Impact of Tea on Stone Formation
Phytochemicals in Food and Medicine, Volume 1, Issue 2, June 2026.ABSTRACT The significant financial burden that urinary stone disease places on healthcare systems is only anticipated to increase over time. It is becoming more common over the globe. It is an increasing urinary condition that impacts around 12% of the global population, and environmental variables appear to be a key contributor.
Munir Ahmed +5 more
wiley +1 more source