 Cystinuria
"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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 | | 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinuria" by people in Profiles.
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Wu CW, Badreddine J, Chang J, Huang YM, Kim FJ, Wild T, Tsai AC, Meeks N, Donalisio Da Silva R, Molina WR, Schumacher FR. Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. Urolithiasis. 2023 Aug 10; 51(1):101.
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Cara Fuentes GM, Espinosa Roman L, Melgosa Hijosa M, Navarro Torres M. Acute renal failure due to bilateral pieloureteral stone impaction in a 10-month-old boy. Clin Exp Nephrol. 2010 Aug; 14(4):401-3.
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DeBerardinis RJ, Coughlin CR, Kaplan P. Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. J Urol. 2008 Dec; 180(6):2620-3.
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