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
Katherine V. Oliver +5 more
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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
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Cystinuria: An Overview of Diagnosis and Medical Management
Turkish archives of pediatrics, 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.
Sanober Sadiq, Onur Çil
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Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study. [PDF]
Int J Mol Sci, 2023 More than 20 years have passed since the identification of SLC3A1 and SLC7A9 as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting ...
Mayayo-Vallverdú C +14 more
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Metabolic consequences of cystinuria
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
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Cystinuria: An Overview of Challenges and Surgical Management
Frontiers in Surgery, 2022 Cystinuria is a genetically inherited condition and a rare cause of kidney stones. It affects approximately 1 in 7,000 of the global population, although wide geographical variances exist (1).
Calum Stephen Clark +3 more
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ACS Applied Materials and Interfaces, 2023 Cystinuria is an inherited autosomal recessive disease of the kidneys of recurring nature that contributes to frequent urinary tract infections due to bacterial growth and biofilm formation surrounding the stone microenvironment.
Anil Kumar +5 more
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Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability. [PDF]
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.
Lee B, Lee SY, Han DH, Park HD.
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Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]
J Vet Intern MedABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Lulich JP, Ulrich R, Furrow E.
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