"Cystinuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Descriptor ID |
D003555
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MeSH Number(s) |
C12.777.419.815.885.250 C13.351.968.419.815.885.250 C16.320.565.861.885.250 C18.452.648.861.885.250
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Cystinuria".
Below are MeSH descriptors whose meaning is more specific than "Cystinuria".
This graph shows the total number of publications written about "Cystinuria" by people in this website by year, and whether "Cystinuria" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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1999 | 1 | 0 | 1 |
2000 | 1 | 0 | 1 |
2001 | 1 | 0 | 1 |
2006 | 2 | 1 | 3 |
2010 | 1 | 0 | 1 |
2020 | 1 | 0 | 1 |
2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinuria" by people in Profiles.
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Cystinuria: Review of a Life-long and Frustrating Disease. Yale J Biol Med. 2021 12; 94(4):681-686.
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Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement. J Endourol. 2020 11; 34(11):1103-1110.
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Effect of increasing doses of cystine-binding thiol drugs on cystine capacity in patients with cystinuria. Urolithiasis. 2019 Dec; 47(6):549-555.
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The Interaction of thiol drugs and urine pH in the treatment of cystinuria. J Urol. 2013 Jun; 189(6):2147-51.
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Medicine. Stopping the stones. Science. 2010 Oct 15; 330(6002):325-6.
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Analysis of 24-hour urine parameters as it relates to age of onset of cystine stone formation. J Endourol. 2010 Jul; 24(7):1179-82.
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Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis. BJU Int. 2006 Jun; 97(6):1285-90.
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Renal crystal deposits and histopathology in patients with cystine stones. Kidney Int. 2006 Jun; 69(12):2227-35.
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Urinary cystine excretion and capacity in patients with cystinuria. Kidney Int. 2006 Mar; 69(6):1041-7.
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Effect of cystine-binding thiol drugs on urinary cystine capacity in patients with cystinuria. J Endourol. 2005 Apr; 19(3):429-32.