S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model [PDF]
Antioxidants, 2021 Cystinuria, a rare inherited aminoaciduria condition, is characterized by the hyperexcretion of cystine, ornithine, lysine, and arginine. Its main clinical manifestation is cystine stone formation in the urinary tract, being responsible for 1–2% total ...
Miguel López de Heredia +8 more
doaj +4 more sources
Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report [PDF]
Clinical Case ReportsKey Clinical Message Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9‐related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal ...
Osaretin Pamela Aigbogun +6 more
doaj +3 more sources
Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report [PDF]
Clinical Case ReportsKey Clinical Message Unilateral renal mucormycosis is a rare infection that should be suspected in patients with recurrent renal infections presenting nonspecific clinical features that do not respond to conventional therapies, especially in impaired ...
Bahar Darouei +3 more
doaj +3 more sources
Metabolic consequences of cystinuria [PDF]
BMC Nephrology, 2019 Background Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man ...
Lauren E. Woodard +9 more
doaj +5 more sources
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria [PDF]
BMC Medical Genomics, 2023 Background Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9.
Danhua Liu +9 more
doaj +2 more sources
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience [PDF]
Biomedicines, 2023 Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients ...
Jae Yong Jeong +6 more
doaj +2 more sources
A Summary of Current Guidelines and Future Directions for Medical Management and Monitoring of Patients with Cystinuria. [PDF]
Healthcare (Basel), 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 ...
Azer SM, Goldfarb DS.
europepmc +2 more sources
Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?
Animals, 2021 The purpose of this review is to summarize current knowledge on canine and feline cystinuria from available scientific reports. Cystinuria is an inherited metabolic defect characterized by abnormal intestinal and renal amino acid transport in which ...
Simona Kovaříková +2 more
doaj +2 more sources
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
doaj +2 more sources
Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report [PDF]
BMC Urology, 2023 Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai +11 more
doaj +2 more sources