Symptoms & Signs
- Blood in the urine
- Flank pain or pain in the side or back
- Usually on one side; rarely felt on both sides
- Often severe
- May get increasingly worse over days
- Pain may also be felt in the pelvis, groin, genitals, or between the upper abdomen and the back.
Diagnosis & Tests
The disorder is usually diagnosed after an episode of kidney stones. Analysis of the stones shows they are made of cystine.
Tests that may be done to detect stones and diagnose this condition include:
- Abdominal CT scan, MRI, or ultrasound
- Intravenous pyelogram (IVP)
- Urinalysis (may show cystine crystals)
- 24-hour urine collection (shows high levels of cystine)
Review Date : 8/30/2009
Reviewed By : Louis S. Liou, MD, PhD, Assistant Professor of Urology, Department of Surgery, Boston University School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.