In this Article
- What is cystinuria?
- How frequent is cystinuria?
- What is a transport defect?
- What causes cystinuria?
- What happens with cystine in the urine?
- What problem do the cystine stones cause?
- What happens with a urinary obstruction?
- What is the effect of urinary obstruction on the kidney?
- What are the signs and symptoms of cystinuria?
- What use is early diagnosis?
- How is cystinuria treated?
- What are the laboratory findings in cystinuria?
- How is cystinuria inherited?
- How long has cystinuria been known?
- Cystinuria At A Glance
What problem do the cystine stones cause?
Small stones are passed in the urine. However, big stones remain in the kidney (nephrolithiasis) impairing the outflow of urine while medium size stones make their way from the kidney into the ureter and lodge there further blocking the flow of urine (urinary obstruction).
What happens with a urinary obstruction?
Obstruction of the urinary tract puts pressure back up on the ureter and kidney. It causes the ureter to widen (dilate) and the kidney to become compressed.
Obstruction of the urinary tract also causes the urine to be stagnant (not moving). Stagnant urine is an open invitation to repeated urinary tract infections.
What is the effect of urinary obstruction on the kidney?
The pressure on the kidneys and the urinary infections result in damage to the kidneys. The damage can progress to renal insufficiency and end-stage kidney disease which require renal dialysis or a kidney transplant.
What are the signs and symptoms of cystinuria?
The stones that form in cystinuria are directly or indirectly responsible for all of the signs and symptoms of the disease, including:
- Hematuria - blood in the urine;
- Flank pain - pain in the side, due to kidney pain;
- Renal colic - intense, cramping pain due to stones in the urinary tract;
- Obstructive uropathy - urinary tract disease due to obstruction; and
- Urinary tract infections.
What use is early diagnosis?
Because of the potential effectiveness of treatment, early diagnosis of cystinuria is important in all persons, regardless of age, who form urinary stones. Failure to diagnose cystinuria early and treat it consistently with the utmost vigor can result in morbidity (illness) and mortality (death). Survival may depend upon dialysis or a kidney transplant.
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