Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria [PDF]
, 2016 Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule. Cystine is poorly soluble in urine with a solubility of ~1 mM and can readily
A Guerra +35 more
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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
The zebrafish cationic amino acid transporter/glycoprotein-associated family: sequence and spatiotemporal distribution during development of the transport system b 0,+ (slc3a1/slc7a9) [PDF]
, 2021 System b0,+ absorbs lysine, arginine, ornithine, and cystine, as well as some (large) neutral amino acids in the mammalian kidney and intestine. It is a heteromeric amino acid transporter made of the heavy subunit SLC3A1/rBAT and the light subunit SLC7A9/
Ellingsen, Ståle +4 more
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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
Clinical profile of a Polish cohort of children and young adults with cystinuria
Renal Failure, 2021 Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk +16 more
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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
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Renal crystal deposits and histopathology in patients with cystine stones [PDF]
, 2006 We have biopsied the papillae of patients who have cystine stones asking if this stone type is associated with specific tissue changes. We studied seven cystine stone formers (SF) treated with percutaneous nephrolithotomy using digital video imaging of ...
Bledsoe, S.B. +10 more
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
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Is D-penicillamine Safe in Management of Little Children with Kidney Cystine Stones? A Case Series [PDF]
, 2015 Nephrolithiasis is quite common in children. It sometimes has a genetic basis and can lead to serious complications like urinary obstruction, multiple surgical interventions, or even renal insufficiency if left treated.
Arshadi, Hamid +6 more
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Frontiers in Medicine, 2023 Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations.
Ema Ivandic +9 more
doaj +1 more source