Symptoms of Cystinuria

The following features are indicative of Cystinuria:
  • flank pain or pain in the side or back
  • blood in the urine
  • nausea
  • chronic or acute renal failure
  • frequent urinary tract infections
It is possible that Cystinuria shows no physical symptoms and still is present in a patient.

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Common Causes of Cystinuria

The following are the most common causes of Cystinuria:
  • abnormal transport of cystine
  • mutations in the SLC3A1 (Solute Carrier Family 3 Member 1) and SLC7A9 (Solute Carrier Family 7 Member 9) genes

Risk Factors for Cystinuria

The following factors may increase the likelihood of Cystinuria:
  • young adults under age 40
  • genetic defect
  • family history

Prevention of Cystinuria

Yes, it may be possible to prevent Cystinuria. Prevention may be possible by doing the following:
  • regularly drink plenty of fluids to produce increased amount of urine
  • lower the intake of salt or sodium

Occurrence of Cystinuria

Number of Cases

The following are the number of Cystinuria cases seen each year worldwide:
  • Common between 1 - 10 Million cases

Common Age Group

Cystinuria can occur at any age.

Common Gender

Cystinuria can occur in any gender.

Lab Tests and Procedures for Diagnosis of Cystinuria

The following lab tests and procedures are used to detect Cystinuria:
  • 24-hour urine collection: To diagnose cystinuria and detect kidney stones
  • Urinalysis: To evaluate if cysteine is present in the urine
  • Abdominal imaging: To detect stones and diagnose the condition
  • Intravenous pyelogram (IVP): To diagnose cystinuria and detect kidney stones

Doctor for Diagnosis of Cystinuria

Patients should visit the following specialists if they have symptoms of Cystinuria:
  • Endocrinologist

Complications of Cystinuria if untreated

Yes, Cystinuria causes complications if it is not treated. Below is the list of complications and problems that may arise if Cystinuria is left untreated:
  • kidney infection
  • bladder injury from stone
  • urinary tract infection
  • kidney injury from stone
  • ureteral obstruction

Procedures for Treatment of Cystinuria

The following procedures are used to treat Cystinuria:
  • Surgery: To remove the stone
  • Percutaneous nephrolithotomy: Treats the condition by placing small tube through the flank directly into the kidney
  • Extracorporeal shock wave lithotripsy: Breaks the larger stones into smaller pieces

Self-care for Cystinuria

The following self-care actions or lifestyle changes may help in the treatment or management of Cystinuria:
  • Drink large amounts of fluids: Decreases the cystine concentration in the urine
  • Eat less salt in diet: Lowers the cystine release and stone formation

Patient Support for Treatment of Cystinuria

The following actions may help Cystinuria patients:
  • Join support organizations: Connect with other patients and families, helps in coping with the disease

Time for Treatment of Cystinuria

While time-period of treatment for each patient may vary, below is the typical time-period for Cystinuria to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Cystinuria.

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