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Cystinuria

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.
Also Known As:
Cystinurias
Networked: 558 relevant articles (19 outcomes, 24 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hepatolenticular Degeneration (Wilson's Disease)
2. Rheumatoid Arthritis
3. Lithiasis
4. Urinary Calculi (Urinary Calculus)
5. Shock

Experts

1. Goldfarb, David S: 11 articles (08/2015 - 04/2005)
2. Palacín, Manuel: 9 articles (01/2015 - 09/2002)
3. Eggermann, Thomas: 7 articles (01/2014 - 01/2002)
4. Zorzano, Antonio: 7 articles (07/2010 - 09/2002)
5. Palacín, M: 7 articles (01/2005 - 01/2000)
6. Daudon, Michel: 6 articles (05/2015 - 01/2004)
7. Nunes, Virginia: 6 articles (01/2015 - 10/2002)
8. Bisceglia, L: 6 articles (01/2012 - 01/2000)
9. Dello Strologo, Luca: 5 articles (02/2014 - 10/2002)
10. Zerres, Klaus: 5 articles (01/2012 - 10/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cystinuria:
1. Penicillamine (Cuprimine)FDA Link
2. Cystine (L-Cystine)IBA
3. Captopril (Capoten)FDA LinkGeneric
4. Amino AcidsFDA Link
5. Ascorbic Acid (Vitamin C)FDA LinkGeneric
6. Lysine (L-Lysine)FDA Link
7. Phenobarbital (Luminal)FDA Link
8. Basic Amino Acids (Basic Amino Acid)IBA
9. CreatinineIBA
10. Sodium Bicarbonate (Baking Soda)FDA LinkGeneric

Therapies and Procedures

1. Lithotripsy (Extracorporeal Shockwave Lithotripsy)
2. Drug Therapy (Chemotherapy)
3. Kidney Transplantation
4. Sodium-Restricted Diet (Diet, Sodium Restricted)
5. Stents