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Cystinuria Differential Diagnoses

  • Author: Chandra Shekhar Biyani, MS, MBBS, DUrol, FRCS(Urol), FEBU; Chief Editor: Bradley Fields Schwartz, DO, FACS  more...
 
Updated: Apr 16, 2015
 
 

Diagnostic Considerations

Renal tubular immaturity in infants, Wilson disease, and Fanconi syndrome are other causes of elevated urinary cystine levels.

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Chandra Shekhar Biyani, MS, MBBS, DUrol, FRCS(Urol), FEBU Consulting Urologist, Department of Urology, Pinderfields General Hospital, The Mid-Yorkshire Hospitals NHS Trust, UK

Chandra Shekhar Biyani, MS, MBBS, DUrol, FRCS(Urol), FEBU is a member of the following medical societies: British Medical Association, International College of Surgeons, British Association of Urological Surgeons, European Association of Urology

Disclosure: Nothing to disclose.

Coauthor(s)

Jon Cartledge, MB, BCh, MD, FRCS Consulting Urologist, Pyrah Department of Urology, St James's University Hospital, Leeds, UK

Jon Cartledge, MB, BCh, MD, FRCS is a member of the following medical societies: British Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Eleanor Lederer, MD, FASN Professor of Medicine, Chief, Nephrology Division, Director, Nephrology Training Program, Director, Metabolic Stone Clinic, Kidney Disease Program, University of Louisville School of Medicine; Consulting Staff, Louisville Veterans Affairs Hospital

Eleanor Lederer, MD, FASN is a member of the following medical societies: American Association for the Advancement of Science, International Society of Nephrology, American Society for Biochemistry and Molecular Biology, American Federation for Medical Research, American Society for Bone and Mineral Research, American Society of Nephrology, American Society of Transplantation, Kentucky Medical Association, National Kidney Foundation, Phi Beta Kappa

Disclosure: Received grant/research funds from Dept of Veterans Affairs for research; Received salary from American Society of Nephrology for asn council position; Received salary from University of Louisville for employment; Received salary from University of Louisville Physicians for employment; Received contract payment from American Physician Institute for Advanced Professional Studies, LLC for independent contractor; Received contract payment from Healthcare Quality Strategies, Inc for independent cont.

Chief Editor

Bradley Fields Schwartz, DO, FACS Professor of Urology, Director, Center for Laparoscopy and Endourology, Department of Surgery, Southern Illinois University School of Medicine

Bradley Fields Schwartz, DO, FACS is a member of the following medical societies: American College of Surgeons, Society of Laparoendoscopic Surgeons, Society of University Urologists, Association of Military Osteopathic Physicians and Surgeons, American Urological Association, Endourological Society

Disclosure: Nothing to disclose.

Additional Contributors

Bradley Fields Schwartz, DO, FACS Professor of Urology, Director, Center for Laparoscopy and Endourology, Department of Surgery, Southern Illinois University School of Medicine

Bradley Fields Schwartz, DO, FACS is a member of the following medical societies: American College of Surgeons, Society of Laparoendoscopic Surgeons, Society of University Urologists, Association of Military Osteopathic Physicians and Surgeons, American Urological Association, Endourological Society

Disclosure: Nothing to disclose.

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Cystine solubility in urine.
Electron microscopic picture showing cystine crystals.
Plain radiograph of the abdomen showing cystine staghorn stones.
Faintly opaque (ground-glass appearance) left lower ureteric stone.
Intravenous urogram showing left ureterohydronephrosis.
Renal sonogram demonstrating renal calculi in the lower pole.
Treatment algorithm for cystinuria.
Table. Classification of Cystinuria
Rosenberg et al [21] Type IType IIType III
MolecularType INon–Type I
Responsible geneSLC3A1SLC7A9
Band2p2119q13.1
No. of mutations>6039
Most common mutationM467V170M
Population affectedMediterranean Spanish persons, 40%Libyan Jews
Deletion rate54%25%
ProteinrBATBAT1
Amino acid transport system
Localization in proximal converted tubuleS3S1, S2
Transporter characteristicHigh affinity, low capacityLow affinity, high capacity
Clinical features
HomozygotesSymptomaticapproximately 90% symptomatic
HeterozygotesAsymptomaticapproximately 10%-13% symptomatic
Urinary cystine levelsNormalElevated +++++Elevated +
Plasma cystine levels after an oral load testSameSame or slight riseIncreased
Intestinal transportAbsent (no transport of cystine, lysine, or arginine)AbsentReduced
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