Cystinuria Clinical Presentation

Updated: Aug 02, 2023
  • Author: Chandra Shekhar Biyani, MS, MBBS, DUrol, FRCS(Urol), FEBU; Chief Editor: Bradley Fields Schwartz, DO, FACS  more...
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The presentation in patients with cystinuria is similar to that of patients with other types of renal calculi and includes the following:

  • Chronic urinary tract infections in a young person with a family history of kidney stones
  • Passage of stones or gravel
  • Hematuria
  • Dysuria

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

Twenty-five percent of symptomatic patients report their first stone in the first decade of life. Another 30%-40% have their first experience as teenagers. 

Homozygous cystinuria is characterized by lifelong, recurrent urolithiasis that is difficult to manage, either surgically or medically. In general, more than 50% of homozygotes develop kidney stones; 75% of these patients present with bilateral calculi.


Physical Examination

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