Results 11 to 20 of about 6,103 (223)
Cystinuria: an inborn cause of urolithiasis [PDF]
Orphanet Journal of Rare Diseases, 2012 Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.
Eggermann Thomas +2 more
doaj +2 more sources
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 +2 more sources
Transient neonatal cystinuria [PDF]
Kidney International, 2005 Cystinuria is an inherited disorder of luminal reabsorptive transport for cystine and dibasic amino acids in the renal proximal tubule. Two cystinuria genes have been identified. Mutations of SLC7A9, which encodes the luminal transport channel itself, tend to be dominant and mutations of SLC3A1 (rBAT), which encodes a transporter subunit, are always ...
Marylise Boutros +3 more
openalex +4 more sources
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 +2 more sources
PATIENT SATISFACTION AND DIETARY OUTCOMES FROM ATTENDING A MULTIDISCIPLINARY CYSTINURIA CLINIC [PDF]
Kidney Research and Clinical Practice, 2012 Cystinuria is a genetic disease that leads to frequent cystine stone formation. A reduced methionine (precursor to cystine) diet has been recommended for cystinuria patients, involving maintenance of healthy weight, limiting intake of animal protein and ...
Angela Doherty +3 more
doaj +2 more sources
Healthcare, 2023 Cystinuria is the most common genetic cause of recurrent kidney stones. As the result of a genetic defect in proximal tubular reabsorption of filtered cystine, increased urine levels of the poorly soluble amino acid result in recurrent cystine ...
Sarah M. Azer, David S. Goldfarb
semanticscholar +1 more source
Pharmacological interventions for the management of cystinuria: a systematic review
JN. Journal of Nephrology (Milano. 1992), 2023 Background Cystinuria is a rare genetic kidney stone disease, with no cure. Current treatments involve lowering urinary cystine levels and increasing cystine solubility.
N. Bhatt +2 more
semanticscholar +1 more source
Urolithiasis, 2023 Cystinuria is a genetic disorder caused by defects in the b^0,+ transporter system, which is composed of rBAT and b^0,+AT coded by SLC3A1 and SLC7A9 , respectively.
Beomki Lee +3 more
semanticscholar +1 more source