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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

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

Concept/Terms

Cystinuria

Below are MeSH descriptors whose meaning is more general than "Cystinuria".

Diseases [C]
Male Urogenital Diseases [C12]
Urologic Diseases [C12.777]
Kidney Diseases [C12.777.419]
Renal Tubular Transport, Inborn Errors [C12.777.419.815]
Renal Aminoacidurias [C12.777.419.815.885]
Cystinuria [C12.777.419.815.885.250]
Female Urogenital Diseases and Pregnancy Complications [C13]
Female Urogenital Diseases [C13.351]
Urologic Diseases [C13.351.968]
Kidney Diseases [C13.351.968.419]
Renal Tubular Transport, Inborn Errors [C13.351.968.419.815]
Renal Aminoacidurias [C13.351.968.419.815.885]
Cystinuria [C13.351.968.419.815.885.250]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Renal Tubular Transport, Inborn Errors [C16.320.565.861]
Renal Aminoacidurias [C16.320.565.861.885]
Cystinuria [C16.320.565.861.885.250]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Renal Tubular Transport, Inborn Errors [C18.452.648.861]
Renal Aminoacidurias [C18.452.648.861.885]
Cystinuria [C18.452.648.861.885.250]

Below are MeSH descriptors whose meaning is related to "Cystinuria".

Below are MeSH descriptors whose meaning is more specific than "Cystinuria".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Cystinuria" by people in Harvard Catalyst Profiles by year, and whether "Cystinuria" was a major or minor topic of these publication.

Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 2013 and 2015 and 2018

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2013	0	1	1
2015	1	0	1
2018	1	0	1

Below are the most recent publications written about "Cystinuria" by people in Profiles.

Reinstatler L, Stern K, Batter H, Scotland KB, Ardekani GS, Rivera M, Chew BH, Eisner B, Krambeck AE, Monga M, Pais VM. Conversion from Cystine to Noncystine Stones: Incidence and Associated Factors. J Urol. 2018 12; 200(6):1285-1289.

View in: PubMed
Varda BK, Johnson EK, Johnson KL, Rosoklija I, Baum MA, Nelson CP. Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study. J Pediatr Urol. 2016 Apr; 12(2):106.e1-7.

View in: PubMed
Prot-Bertoye C, Lebbah S, Daudon M, Tostivint I, Bataille P, Bridoux F, Brignon P, Choquenet C, Cochat P, Combe C, Conort P, Decramer S, Doré B, Dussol B, Essig M, Gaunez N, Joly D, Le Toquin-Bernard S, Méjean A, Meria P, Morin D, N'Guyen HV, Noël C, Normand M, Pietak M, Ronco P, Saussine C, Tsimaratos M, Friedlander G, Traxer O, Knebelmann B, Courbebaisse M. CKD and Its Risk Factors among Patients with Cystinuria. Clin J Am Soc Nephrol. 2015 May 07; 10(5):842-51.

View in: PubMed
Koraishy FM, Cohen RA, Israel GM, Dahl NK. Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. Am J Kidney Dis. 2013 Oct; 62(4):806-9.

View in: PubMed
Sidi R, Levy-Nissenbaum E, Kreiss Y, Kreiss I, Pras E. Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls. Isr Med Assoc J. 2003 Jun; 5(6):439-42.

View in: PubMed
Rudnick DM, Bennett PM, Dretler SP. Retrograde renoscopic fragmentation of moderate-size (1.5-3.0-cm) renal cystine stones. J Endourol. 1999 Sep; 13(7):483-5.

View in: PubMed
Dretler SP. The physiologic approach to the medical management of stone disease. Urol Clin North Am. 1998 Nov; 25(4):613-23, ix.

View in: PubMed
Jaeger P, Portmann L, Saunders A, Rosenberg LE, Thier SO. Anticystinuric effects of glutamine and of dietary sodium restriction. N Engl J Med. 1986 Oct 30; 315(18):1120-3.

View in: PubMed
Dretler SP, Pfister RC, Newhouse JH, Prien EL. Percutaneous catheter dissolution of cystine calculi. J Urol. 1984 Feb; 131(2):216-9.

View in: PubMed
Thier SO. Dibasic amino acid transport: lessons from human disease. Trans Am Clin Climatol Assoc. 1984; 95:132-6.

View in: PubMed

Related Networks

People

Explore

Similar Concepts

Top Journals

N Engl J Med
J Urol
Pediatrics
J Pediatr Urol
J Endourol
Isr Med Assoc J
Clin J Am Soc Nephrol
Urol Clin North Am
Trans Am Clin Climatol Assoc
Am J Kidney Dis