About Cystinuria

What is Cystinuria?

Cystinuria is an inherited disorder that affects the kidneys and causes an excessive amount of the amino acid cystine to be excreted in the urine. This can lead to the formation of cystine stones in the kidneys, bladder, and ureters, which can cause pain and blockage of the urinary tract. Treatment typically involves medications to reduce the amount of cystine in the urine, as well as dietary changes and increased fluid intake.

What are the symptoms of Cystinuria?

The most common symptoms of cystinuria include:

-Frequent and painful urination
-Cloudy or bloody urine
-Abdominal pain
-Nausea and vomiting
-Fever
-Frequent urinary tract infections
-Kidney stones
-Loss of appetite
-Weight loss
-Fatigue

What are the causes of Cystinuria?

Cystinuria is a rare inherited disorder caused by a genetic mutation that affects the transport of certain amino acids, including cystine, in the kidneys. The mutation affects the proteins responsible for transporting cystine, lysine, arginine, and ornithine, resulting in an accumulation of cystine in the urine. This accumulation can lead to the formation of cystine stones in the kidneys, bladder, and ureters.

What are the treatments for Cystinuria?

The main treatments for cystinuria are dietary modifications, medications, and hydration. Dietary modifications include reducing the intake of cystine-containing foods such as red meat, eggs, and dairy products. Medications such as alpha-mercaptopropionylglycine (tiopronin) and penicillamine can be used to reduce cystine levels in the urine. Hydration is also important to help flush out cystine from the body. In some cases, surgery may be necessary to remove stones that have formed in the urinary tract.

What are the risk factors for Cystinuria?

1. Family history: Cystinuria is an inherited disorder, so having a family member with the condition increases your risk.

2. Age: Cystinuria is more common in children and young adults.

3. Gender: Cystinuria is more common in males than females.

4. Ethnicity: Cystinuria is more common in people of Ashkenazi Jewish descent.

Is there a cure/medications for Cystinuria?

Yes, there are medications available to treat cystinuria. These medications work by increasing the amount of water in the urine, which helps to reduce the amount of cystine crystals that form. Additionally, certain dietary changes may be recommended to reduce the amount of cystine in the urine. In some cases, surgery may be necessary to remove stones that have formed in the urinary tract.