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Cystinuria Clinical Presentation

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


Patients with cystinuria usually present with renal colic. Uncommon presentations include hematuria, chronic backache, and urinary tract infection. Twenty-five percent of symptomatic patients report their first stone in the first decade of life, and another 30%-40% have their first experience as teenagers. According to Sakhaee et al, approximately 20%-40% of the stones in persons with cystinuria are mixed: hypercalciuria (19%), hypocitraturia (44%), and hyperuricosuria (22%).[25]

Infrequent association with retinitis pigmentosa, hemophilia, muscular dystrophy, mongolism, and hereditary pancreatitis has been reported.

  • Homozygous cystinuria is characterized by lifelong, recurrent urolithiasis that is difficult to manage, either surgically or medically.
  • In general, more than 50% of asymptomatic homozygotes develop kidney stones.
  • Seventy-five percent of these patients present with bilateral calculi.
  • Recurrence rates after surgical intervention approach 45% at 3 months without medical management. The recurrence rate with medical management improves to approximately 25% at 3 years after surgery but is still inferior to rates for other types of calculi.
  • Typical age of onset is in the second or third decade of life.
  • Presentation is similar to that of other types of renal calculi and includes renal colic, chronic urinary tract infections in a young person with a family history of kidney stones, passage of stones or gravel, hematuria, and dysuria. The clinical symptoms usually develop within the first 2 decades of life.
  • Complications of cystinuria include hypertension, renal insufficiency, recurrent urinary tract infections, and even end-stage renal disease.


Examination findings of fever (with urinary tract infection) and costovertebral angle tenderness are identical to those of other types of calculi.



Cystinuria is an autosomal-recessive disease. The genetic defect impairs intestinal absorption and renal reabsorption of cystine, causing elevated urinary levels of cystine and subsequent crystallization and stone formation.

Contributor Information and Disclosures

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.


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
No. of mutations>6039
Most common mutationM467V170M
Population affectedMediterranean Spanish persons, 40%Libyan Jews
Deletion rate54%25%
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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