"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 |
|---|
| 1999 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinuria" by people in Profiles.
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Medical Nutrition Therapy for Pediatric Kidney Stone Prevention, Part 3: Cystinuria. J Ren Nutr. 2017 05; 27(3):e19-e21.
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Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet. 2001 Feb 15; 10(4):305-16.
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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet. 1999 Sep; 23(1):52-7.
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Use of diuretics in nonedematous states. Tex Med. 1973 Jul; 69(7):75-8.
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Diuretics in nonedematous states. Physiological basis for the clinical use. Arch Intern Med. 1973 Jun; 131(6):797-808.