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